Autism and Sleep Disorders

Autism and Sleep Disorders

People with autism may also suffer from disrupted sleep.  Studies have found that more than 50% of the children with autism and possibly as many as four in five have one or more chronic sleep problems. (Cortesi 2010, Krakowiak 2008) Few commonly faced problems include difficulty falling asleep, prolonged wakening during the night and extremely early raising.

Sleep issues may have an effect during the day on the behavioural challenges for children with autism, which includes spikes in repetitive behaviour, difficulty in communication, hyperactivity, irritability, aggression and inattention – which have a huge impact on learning and a decrease in the overall quality of life. (Mazurek 2016)

It is well known that people with autism may have sleep issues and that goes hand in hand with day time behavioural challenges which might interfere in their learning and negative impact on the overall quality of life.

It was reported from many parents who are unable to sleep themselves for fear that their children will leave their rooms or even their homes in the night.  Wandering from safety, or elopement is a common and life-threatening problem affecting nearly 50% of the children with autism above 4 years. (Anderson 2012)  In 2006 a study found “significant” levels of chronic stress in 90% of parents of “problem sleepers” with autism compared to 65% of parents of non-problem sleepers with autism. (D00 2006)

Studies have shown that genes play an important role in regulating the body’s sleep-wake cycle (circadian rhythm), people with autism are twice as likely to have mutations in genes that regulate the circadian rhythm.

What causes autism-related sleep problems?

Research suggests that the cause of disrupted sleep in people with autism goes beyond poor sleep hygiene habits that disrupt sleep in the general population (Johnson 2008).  Many potentially biological causes are identified from various studies, which likely vary and sometime overlap – in different people.

  • Genetic studies have shown that people with autism are twice as likely as other people to have mutations in genes that regulate the body’s sleep-wake cycle (circadian rhythm). (Yang 2015)
  • Seizures and sleep can worsen each other – undetected seizures during the night disrupts sleep patterns and lack of sleep or insufficient sleep worsens seizure control in people with autism who also have epilepsy. (Accardo 2015)
  • Anxiety can affect sleep. It can interfere with the ability to fall asleep and stay asleep.  Studies suggest that 11- 40% of children and teens with autism struggle with one or more anxiety disorders. (Vasa 2016, White 2009)  It can also set up a worsening cycle with insufficient sleep worsening anxiety and depression.
  • Rapid eye movement (REM) is associated with dreaming, and plays an important role in learning, memory and brain development. Studies suggest that children with autism spend relatively less time in REM stage of sleep than do other children.  Children with autism spent around 15% of their sleep time in REM versus 23% of the other children.  (Buckley 2010).  The importance of REM has created a new interest for scientists to look more broadly at autism-related changes in the neuro-transmitter (brain-signalling molecules) that help control sleep.
  • Melatoni so called the sleep hormone, produced by the brain, is found to be produced at lower levels in people with autism. (Nir 1995, Kulman 2000, Tordjman 2005, Melke 2008) A recent study found there is little difference in melatonin levels between children with and without autism.  It concluded that autism-related sleep difficulties are not solely driven by biological differences. (Goldman 2017)

Fostering better sleep

Neurologist and sleep specialist Beth Malow, of Vanderbilt University Medical Center, has pioneered research-based clinical guidelines for evaluating and addressing sleep disturbances in children with autism, (Malow 2012) as well as programs designed to teach parents strategies for improving the sleep of children with autism. (Malow 2014)

 

Sri Lakshmi H A  (Senior Nutritionist)
Autism and Gastrointestinal Disorders

Autism and Gastrointestinal Disorders

 

The most common medical condition associated with autism is gastrointestinal disorder. (Nikolov 2009)

MIND institute (University of California, Davis) documented that children with autism were eight times more likely to suffer from one or more chronic GI problems than other children. (Chaidez 2014)  Common GI issues include diarrhoea, constipation, painful stooling along with gaseousness and abdominal pain.  The study also linked chronic GI issues with increased severity of autism behavioural symptoms, including irritability, hyperactivity, social withdrawal and repetitive behaviours.  It also found a strong association between GI issues and autism symptoms among nonverbal persons who have difficulty in communicating pain and distress.

The microbiome

There is evidence since the late 1990s, that any unhealthy change in the intestinal tract’s normal community of digestive bacteria (microbiome) drive both behavioural and GI problems in some people with autism.  Ellen Bolte was the first person to notice the gut-brain connection. The mother of a child with autism saw a parallel between her son’s symptoms and infant botulism. (Bolte 1998) Ms. Bolte’s ideas inspired many researchers.  Sydney Finegold, an infectious disease specialist at University of California, Los Angeles showed that bacteria in the intestine produce toxins that spike and affect the brain via the vagus nerve between the digestive tract and the brain. (Finegold 2002)

Identification and treatment

The first guidelines, published in the year 2010 in the journal Pediatrics, helped healthcare providers to identify and treat GI problems in children with autism. (Buie 2012)  These guidelines emphasized that a detailed evaluation for GI distress is particularly important in those children who have an unexplained spike in behavioural problems.  The specific issues included:

  1. Chronic constipation

A survey conducted in the year between 2006 and 2010, by U S Center for Disease Control (CDC) found that children with autism were more 3.5 times more likely to suffer chronic constipation or diarrhoea than were typically developing children. (Schieve 2012) Difficulty in emptying the bowels refers to constipation which involves hard stools.  Periodic constipation is normal, but chronic constipation (lasting two weeks or more) can lead to several medical complications which include haemorrhoids, rectal fissures and prolapse of the rectum and or lower intestines.  Apart from the associated pain, passing hard stools can lead to an aversion to toileting that contributes to the problem.

It’s more challenging to recognize GI distress among many who have autism particularly the non-verbal and minimally verbal, and those with intellectual disability in communicating the pain and distress.  Tell-tale behaviour can include arching the back, pressing the belly and gritting teeth. GI pain can also prompt spikes in self-soothing repetitive behaviour as well as irritability, aggression, self-injury and other challenging behavioural issues.

Factors that contribute to chronic constipation:

  • Insufficient fiber in the diet, particularly common with gluten-free diets as well as highly restricted diets associated with sensory aversion (Miranda 2014, Graf-Myles 2013)
  • Certain behavioural medication including risperidone (De Hert 2011)
  • Behavioural issues and /or sensory issues that interfere with regular toileting (Dalrymple 1992)

Anatomic, neurological or metabolic problems and abnormal gut motility (a sluggish intestinal tract) are less common but potentially more serious contributors.

Medical and behavioural intervention are the best combination in the treatment plan.  Behavioural management includes dietary changes such as increasing the amount of fiber in the diet and to restrict or eliminate the foods that causes constipation and which helps in managing toileting behaviours, also includes making the child learn to sit on the toilet after meals.  Medication may include laxatives and / or soluble fiber.

  1. Chronic diarrhoea

Periodic bouts of diarrhoea are normal, but chronic (two weeks or more) can adversely affect the health and quality of life.  It is important to evaluate and address medical causes such as immune dysfunction, inflammatory bowel diseases (Crohns or ulcerative colitis), intestinal function, irritable bowel syndrome, celiac disease (gluten intolerance), certain food allergies, lactose intolerance or excessive consumption of certain foods or drinks

Diarrhoea in people with autism often results from severe constipation.  This happens when hard, stuck stools cause a backup of watery contents.   The watery contents spill around the hard stools to cause the sudden diarrhoea.

Evaluation, investigation is recommended to initiate the treatment depending on the cause.  Dietary changes can ease diarrhoea which may be due to excessive juice, food allergies, lactose intolerance or celiac disease.

  1. Gastroesophageal reflux disease (GERD)

The muscle between the stomach and oesophagus (food pipe) when relaxed results in gastroesophageal reflux disease (GERD).  In this condition the partially digested food and liquid mixed with stomach acid to move up out of the stomach.  GERD may cause ulceration of the oesophagus and predispose a person to oesophageal cancer.  The evaluation of the medical condition and an expert referral is recommended.

Experts/ healthcare professionals often look for symptoms such as throat discomfort and/ or feelings of heartburn, children sometimes experience GERD pain in atypical ways. The most challenging is when nonverbal or minimally verbal people have difficulty in expressing or communicating their pain and discomfort. Few signs of GERD pain include an increase in repetitive and self-injurious behaviour which may include head banging, as well as other challenging behaviour.  Tell-tale behaviour can include unusual body postures, straining the neck, pushing out the jaw or tapping the throat.  These behaviours are triggered when the person lies down, which helps professionals to identify, with additional signs or symptoms including hoarseness, chronic sore throat, cough or heartburn, dental erosions, food refusal or disturbed sleep.

One of the most important changes required is to avoid foods that tend to trigger symptoms, eating smaller meals and avoiding food near bedtime. Severe and chronic GERD warrants tests to identify acid levels and tissue damage in the oesophagus.

Casein- and gluten-free diets

Gluten is primarily found in wheat, barley rye; casein is found in milk products.  Studies have shown that a diet free of the protein gluten and casein had an improvement on behaviour of the children with autism. (Pillsbury 2016)

Studies found little evidence that casein and gluten-free diets reduce autism symptoms. (Mulloy 2010). Researchers from the university of Rochester Medical center conducted a clinical trial on children with autism, that switched to a diet that included gluten and casein, and a diet free of them. They used look alike, taste alike foods. (Hyman 2016) Neither the children, their parents nor the researchers knew who was getting which food until after two segments of the study were completed.  There was not much significant behavioural change in children with autism after the analysis of their daily diaries.  However, researchers say that it is possible that a small subset of people with autism do benefit from a gluten- and casein-free diet.

Probiotics

Fermented /cultured foods such as yogurt, idli, dosa, cheese, etc., contain probiotic bacteria so called “good” or healthy bacteria.  There are a few promising results with fermented foods, in studies with mice bred to display autism- like symptoms such as social avoidance and repetitive behaviours. (Hsiao 2013, Critchfiled 2011, Breece 2013)  Researchers at Ohio State University are enrolling children with autism in a clinical trial to evaluate whether a well-studied probiotic (a “good,” or health-promoting bacterium) can relieve anxiety and improve quality of life in children who have autism.

 

 

Sri Lakshmi H A  (Senior Nutritionist)
Autism and Epilepsy (Seizure Disorder)

Autism and Epilepsy (Seizure Disorder)

 

Epilepsy affects 20- 33% of people with autism, compared to an estimated 1-2% of the general population.

Epilepsy, or seizure disorder, was the first medical condition clearly connected to autism. (Gubbay 1970) Emotionally cold parenting and autism is a false theory because there’s evidence that autism is a neurodevelopmental condition (affecting the brain development).

The overlap of autism and epilepsy appears to be most common in people who also have intellectual disability. (Amiet 2008)

Intellectual disability is defined as an IQ score below 70, along with challenges or difficulties performing everyday functions.  Intellectual disability affects an estimate 32% of people with autism. (Christensen 2016)

Diagnosis and treating epilepsy effectively with autism is important, to prevent the potential for brain damage and death from uncontrolled seizures.  A review of 21 studies in 2012 found out that death due to epilepsy was 7-30% among people with autism. (Woolfenden 2012)  There are a few studies on children with autism, epilepsy and sleep disorders – researchers suggest that it’s a vicious cycle – uncontrolled seizures affect sleep and disrupted sleep increases seizures. (Malow 2004)

How to recognize epilepsy in someone with autism

The association between epilepsy and autism is well known. The most challenging part is the diagnosis because seizures are not always outwardly evident, which makes it even more challenging to identify.

Seizures begin at any age, though researchers have identified them in two peaks, onset among children with autism – preschool and in adolescence.  (Rossi 2000)

Characteristic symptoms include:

  • Unexplained staring spells
  • Stiffening of muscles
  • Involuntary jerking of limbs

 

Other less-specific symptoms can include:

  • Sleepiness or sleep disturbances
  • Marked and unexplained irritability or aggressiveness
  • Regression in normal development

Severity of autism with epilepsy varies widely. It is important for experts to identify seizures and its affects by pinpointing where they begin in the brain.  This helps experts choose seizure medication, potential benefits of epilepsy surgery, outlook and possible causes. (Fisher 2017)

 

Diagnosing and treating epilepsy in those affected by autism

A neurologist’s evaluation for any suspicion of seizures is crucial. He/she may order an Electroencephalogram (EEG), a non-invasive process that involves placing electrodes on the head to monitor activity in the brain.  An analysis of the EEG patterns will help them identify altered brain activities of concern.  For people with autism, sensory and communication is often challenging, hence EEG protocols address these issues.  (Katz 2015)

Treatment principles for people with autism is similar to the treatment of epilepsy.  Depending on the severity, type of seizure and EEG patterns health care professionals prescribe anti-epileptic medications.

Anti-epileptic medication does not cure epilepsy.  The treatment goal is to minimize seizure episodes. Once the medication course is initiated, the neurologist works closely with the patient and his family to understand its effectiveness and side effects.  They also try and minimize side effects by prescribing a low dose and slowly increasing as per the requirement.  Common side effects include dizziness, mild to moderate fatigue, abdominal discomfort.  The titration of the medication is customized to arrive at an optimal dose and to take control of seizures over time.

It is found that anti-epileptic drugs eliminate seizures in around two-thirds of patients.  Sometimes a combination of two or more medications is prescribed to control seizures.  If the patient fails to respond, then other options are discussed.  Including the vagus nerve stimulation, a technique that prevents seizures by sending pules of electrical energy to the brain through a device that acts like a “pacemaker” for the brain.  The other option is the surgical removal of seizure-producing areas of the brain. (Morris 1999)

Research on epilepsy and autism

Certain gene mutations, or changes in the DNA, increase the occurrence of both epilepsy and autism.  These genes cause rare syndromes whose symptoms frequently include both conditions.  The syndromes include tuberous sclerosis and fragile X syndrome and cortical dysplasia-focal epilepsy. (Garcia – Nonell 2008, Huang 2015, Poot 2015) The treatment can be potential, by personalizing and specifically targeting the affected brain networks of the patient.

 

Sri Lakshmi H A  (Senior Nutritionist)
Autism

Autism

Autism

Autism-1-Pristine Balance Metanutrition

Autism affects one in 160 children globally.  A whole body or neuro-mental disorder, it affects people in varying degrees and in a variety of ways.  Commonly witnessed comorbidities include seizures, depression, gastrointestinal and sleep disturbances, eating and feeding difficulties, anxiety, bipolar disorder, attention deficit and hyperactivity disorder (ADHD).  These difficulties can extend across the life span.  Studies have found that people with autism have half the life span compared with the general population – an average of 36 versus 72 years. (Guan 2017)

Autism itself is not a cause of premature mortality. Rather, it relates to many medical and mental health conditions in this report – most of which are treatable and/or preventable.

Causes

Scientific evidence suggests that there are many environmental and genetic factors that may make a child more likely to have ASD.  Factors that increase the risk of developing ASD are:

  • Genetic conditions like down syndrome, fragile x syndrome and Rett syndrome
  • Children born with very low birth weight
  • Older parents
  • Siblings with ASD

Of course, not everyone with these risk factors develops ASD.

Diagnosis

The behaviour and development of a person is a tool to diagnose ASD.  Generally diagnosed by the age of two, assessment of the condition is important for the treatment to begin.

Diagnosis in young children is often conducted in 2 stages:

Stage1:  General Developmental Screening/ paediatric screening

The second stage of evaluation will be referred to those children who show developmental difficulties during the screening process.

Stage 2: Additional evaluation, by a team of doctors and health care professionals, assesses:

  • Cognitive level or thinking skills
  • Difficulty in learning language or language abilities
  • Difficulty to complete age – appropriate daily activities such as eating, dressing and toileting.

Recommendation and diagnosis of ASD is based on a comprehensive evaluation of blood tests and hearing tests.  Since ASD is a complex disorder it sometimes represents along with other illness or learning disorders.

Treatment

There is no single best treatment for ASD.  Early diagnosis and treatment can help the individual, while helping them learn new skills and make most of their strengths.

Medication:

Medications are prescribed to treat some symptoms of ASD, thereby alleviate some problems, like:

  • Irritability
  • Aggression
  • Repetitive behaviour
  • Hyperactivity
  • Attention problems
  • Anxiety and depression

Genetic researchers are delving into the biological cause of autism and its associated health conditions.  A new avenue of autism research is aimed at identifying the many biological subtypes of autism and developing customized treatment and support.  Specialists at autism care centres work with patients and their families to improve the health and quality of life by specific medical education programs.

Key facts

  • One in 160 children has an autism spectrum disorder (ASD)(1).
  • ASDs begin in childhood and tend to persist into adolescence and adulthood.
  • While some people with ASD can live independently, others have severe disabilities and require life-long care and support.
  • Evidence-based psychosocial interventions, such as behavioural treatment and parent skills training programmes, can reduce difficulties in communication and social behaviour, with a positive impact on the well-being and quality of life for persons with ASD and their caregivers.
  • Interventions for people with ASD need to be accompanied by broader actions for making physical, social and attitudinal environments more accessible, inclusive and supportive.
  • Worldwide, people with ASD are often subject to stigma, discrimination and human rights violations. Globally, access to services and support for people with ASD is inadequate.

Source : WHO

 

 

Autism and epilepsy (seizure disorder)

 

Autism-2-Pristine Balance Metanutrition

 

Epilepsy affects 20- 33% of people with autism, compared to an estimated 1-2% of the general population.

Epilepsy, or seizure disorder, was the first medical condition clearly connected to autism. (Gubbay 1970) Emotionally cold parenting and autism is a false theory because there’s evidence that autism is a neurodevelopmental condition (affecting the brain development).

The overlap of autism and epilepsy appears to be most common in people who also have intellectual disability. (Amiet 2008)

Intellectual disability is defined as an IQ score below 70, along with challenges or difficulties performing everyday functions.  Intellectual disability affects an estimate 32% of people with autism. (Christensen 2016)

Diagnosis and treating epilepsy effectively with autism is important, to prevent the potential for brain damage and death from uncontrolled seizures.  A review of 21 studies in 2012 found out that death due to epilepsy was 7-30% among people with autism. (Woolfenden 2012)  There are a few studies on children with autism, epilepsy and sleep disorders – researchers suggest that it’s a vicious cycle – uncontrolled seizures affect sleep and disrupted sleep increases seizures. (Malow 2004)

How to recognize epilepsy in someone with autism

The association between epilepsy and autism is well known. The most challenging part is the diagnosis because seizures are not always outwardly evident, which makes it even more challenging to identify.

Seizures begin at any age, though researchers have identified them in two peaks, onset among children with autism – preschool and in adolescence.  (Rossi 2000)

Characteristic symptoms include:

  • Unexplained staring spells
  • Stiffening of muscles
  • Involuntary jerking of limbs

 

Other less-specific symptoms can include:

  • Sleepiness or sleep disturbances
  • Marked and unexplained irritability or aggressiveness
  • Regression in normal development

Severity of autism with epilepsy varies widely. It is important for experts to identify seizures and its affects by pinpointing where they begin in the brain.  This helps experts choose seizure medication, potential benefits of epilepsy surgery, outlook and possible causes. (Fisher 2017)

 

Diagnosing and treating epilepsy in those affected by autism

A neurologist’s evaluation for any suspicion of seizures is crucial. He/she may order an Electroencephalogram (EEG), a non-invasive process that involves placing electrodes on the head to monitor activity in the brain.  An analysis of the EEG patterns will help them identify altered brain activities of concern.  For people with autism, sensory and communication is often challenging, hence EEG protocols address these issues.  (Katz 2015)

Treatment principles for people with autism is similar to the treatment of epilepsy.  Depending on the severity, type of seizure and EEG patterns health care professionals prescribe anti-epileptic medications.

Anti-epileptic medication does not cure epilepsy.  The treatment goal is to minimize seizure episodes. Once the medication course is initiated, the neurologist works closely with the patient and his family to understand its effectiveness and side effects.  They also try and minimize side effects by prescribing a low dose and slowly increasing as per the requirement.  Common side effects include dizziness, mild to moderate fatigue, abdominal discomfort.  The titration of the medication is customized to arrive at an optimal dose and to take control of seizures over time.

It is found that anti-epileptic drugs eliminate seizures in around two-thirds of patients.  Sometimes a combination of two or more medications is prescribed to control seizures.  If the patient fails to respond, then other options are discussed.  Including the vagus nerve stimulation, a technique that prevents seizures by sending pules of electrical energy to the brain through a device that acts like a “pacemaker” for the brain.  The other option is the surgical removal of seizure-producing areas of the brain. (Morris 1999)

Research on epilepsy and autism

Certain gene mutations, or changes in the DNA, increase the occurrence of both epilepsy and autism.  These genes cause rare syndromes whose symptoms frequently include both conditions.  The syndromes include tuberous sclerosis and fragile X syndrome and cortical dysplasia-focal epilepsy. (Garcia – Nonell 2008, Huang 2015, Poot 2015) The treatment can be potential, by personalizing and specifically targeting the affected brain networks of the patient.

 

Autism and gastrointestinal disorders

Autism-3-Pristine Balance Metanutrition

The most common medical condition associated with autism is gastrointestinal disorder. (Nikolov 2009)

MIND institute (University of California, Davis) documented that children with autism were eight times more likely to suffer from one or more chronic GI problems than other children. (Chaidez 2014)  Common GI issues include diarrhoea, constipation, painful stooling along with gaseousness and abdominal pain.  The study also linked chronic GI issues with increased severity of autism behavioural symptoms, including irritability, hyperactivity, social withdrawal and repetitive behaviours.  It also found a strong association between GI issues and autism symptoms among nonverbal persons who have difficulty in communicating pain and distress.

The microbiome

There is evidence since the late 1990s, that any unhealthy change in the intestinal tract’s normal community of digestive bacteria (microbiome) drive both behavioural and GI problems in some people with autism.  Ellen Bolte was the first person to notice the gut-brain connection. The mother of a child with autism saw a parallel between her son’s symptoms and infant botulism. (Bolte 1998) Ms. Bolte’s ideas inspired many researchers.  Sydney Finegold, an infectious disease specialist at University of California, Los Angeles showed that bacteria in the intestine produce toxins that spike and affect the brain via the vagus nerve between the digestive tract and the brain. (Finegold 2002)

Identification and treatment

The first guidelines, published in the year 2010 in the journal Pediatrics, helped healthcare providers to identify and treat GI problems in children with autism. (Buie 2012)  These guidelines emphasized that a detailed evaluation for GI distress is particularly important in those children who have an unexplained spike in behavioural problems.  The specific issues included:

  1. Chronic constipation

A survey conducted in the year between 2006 and 2010, by U S Center for Disease Control (CDC) found that children with autism were more 3.5 times more likely to suffer chronic constipation or diarrhoea than were typically developing children. (Schieve 2012) Difficulty in emptying the bowels refers to constipation which involves hard stools.  Periodic constipation is normal, but chronic constipation (lasting two weeks or more) can lead to several medical complications which include haemorrhoids, rectal fissures and prolapse of the rectum and or lower intestines.  Apart from the associated pain, passing hard stools can lead to an aversion to toileting that contributes to the problem.

It’s more challenging to recognize GI distress among many who have autism particularly the non-verbal and minimally verbal, and those with intellectual disability in communicating the pain and distress.  Tell-tale behaviour can include arching the back, pressing the belly and gritting teeth. GI pain can also prompt spikes in self-soothing repetitive behaviour as well as irritability, aggression, self-injury and other challenging behavioural issues.

Factors that contribute to chronic constipation:

  • Insufficient fiber in the diet, particularly common with gluten-free diets as well as highly restricted diets associated with sensory aversion (Miranda 2014, Graf-Myles 2013)
  • Certain behavioural medication including risperidone (De Hert 2011)
  • Behavioural issues and /or sensory issues that interfere with regular toileting (Dalrymple 1992)

Anatomic, neurological or metabolic problems and abnormal gut motility (a sluggish intestinal tract) are less common but potentially more serious contributors.

Medical and behavioural intervention are the best combination in the treatment plan.  Behavioural management includes dietary changes such as increasing the amount of fiber in the diet and to restrict or eliminate the foods that causes constipation and which helps in managing toileting behaviours, also includes making the child learn to sit on the toilet after meals.  Medication may include laxatives and / or soluble fiber.

  1. Chronic diarrhoea

Periodic bouts of diarrhoea are normal, but chronic (two weeks or more) can adversely affect the health and quality of life.  It is important to evaluate and address medical causes such as immune dysfunction, inflammatory bowel diseases (Crohns or ulcerative colitis), intestinal function, irritable bowel syndrome, celiac disease (gluten intolerance), certain food allergies, lactose intolerance or excessive consumption of certain foods or drinks

Diarrhoea in people with autism often results from severe constipation.  This happens when hard, stuck stools cause a backup of watery contents.   The watery contents spill around the hard stools to cause the sudden diarrhoea.

Evaluation, investigation is recommended to initiate the treatment depending on the cause.  Dietary changes can ease diarrhoea which may be due to excessive juice, food allergies, lactose intolerance or celiac disease.

  1. Gastroesophageal reflux disease (GERD)

The muscle between the stomach and oesophagus (food pipe) when relaxed results in gastroesophageal reflux disease (GERD).  In this condition the partially digested food and liquid mixed with stomach acid to move up out of the stomach.  GERD may cause ulceration of the oesophagus and predispose a person to oesophageal cancer.  The evaluation of the medical condition and an expert referral is recommended.

Experts/ healthcare professionals often look for symptoms such as throat discomfort and/ or feelings of heartburn, children sometimes experience GERD pain in atypical ways. The most challenging is when nonverbal or minimally verbal people have difficulty in expressing or communicating their pain and discomfort. Few signs of GERD pain include an increase in repetitive and self-injurious behaviour which may include head banging, as well as other challenging behaviour.  Tell-tale behaviour can include unusual body postures, straining the neck, pushing out the jaw or tapping the throat.  These behaviours are triggered when the person lies down, which helps professionals to identify, with additional signs or symptoms including hoarseness, chronic sore throat, cough or heartburn, dental erosions, food refusal or disturbed sleep.

One of the most important changes required is to avoid foods that tend to trigger symptoms, eating smaller meals and avoiding food near bedtime. Severe and chronic GERD warrants tests to identify acid levels and tissue damage in the oesophagus.

Casein- and gluten-free diets

Gluten is primarily found in wheat, barley rye; casein is found in milk products.  Studies have shown that a diet free of the protein gluten and casein had an improvement on behaviour of the children with autism. (Pillsbury 2016)

Studies found little evidence that casein and gluten-free diets reduce autism symptoms. (Mulloy 2010). Researchers from the university of Rochester Medical center conducted a clinical trial on children with autism, that switched to a diet that included gluten and casein, and a diet free of them. They used look alike, taste alike foods. (Hyman 2016) Neither the children, their parents nor the researchers knew who was getting which food until after two segments of the study were completed.  There was not much significant behavioural change in children with autism after the analysis of their daily diaries.  However, researchers say that it is possible that a small subset of people with autism do benefit from a gluten- and casein-free diet.

Probiotics

Fermented /cultured foods such as yogurt, idli, dosa, cheese, etc., contain probiotic bacteria so called “good” or healthy bacteria.  There are a few promising results with fermented foods, in studies with mice bred to display autism- like symptoms such as social avoidance and repetitive behaviours. (Hsiao 2013, Critchfiled 2011, Breece 2013)  Researchers at Ohio State University are enrolling children with autism in a clinical trial to evaluate whether a well-studied probiotic (a “good,” or health-promoting bacterium) can relieve anxiety and improve quality of life in children who have autism.

 

Autism and sleep disorders

 

Autism-4-Pristine Balance Metanutrition

 

People with autism may also suffer from disrupted sleep.  Studies have found that more than 50% of the children with autism and possibly as many as four in five have one or more chronic sleep problems. (Cortesi 2010, Krakowiak 2008) Few commonly faced problems include difficulty falling asleep, prolonged wakening during the night and extremely early raising.

Sleep issues may have an effect during the day on the behavioural challenges for children with autism, which includes spikes in repetitive behaviour, difficulty in communication, hyperactivity, irritability, aggression and inattention – which have a huge impact on learning and a decrease in the overall quality of life. (Mazurek 2016)

It is well known that people with autism may have sleep issues and that goes hand in hand with day time behavioural challenges which might interfere in their learning and negative impact on the overall quality of life.

It was reported from many parents who are unable to sleep themselves for fear that their children will leave their rooms or even their homes in the night.  Wandering from safety, or elopement is a common and life-threatening problem affecting nearly 50% of the children with autism above 4 years. (Anderson 2012)  In 2006 a study found “significant” levels of chronic stress in 90% of parents of “problem sleepers” with autism compared to 65% of parents of non-problem sleepers with autism. (D00 2006)

Studies have shown that genes play an important role in regulating the body’s sleep-wake cycle (circadian rhythm), people with autism are twice as likely to have mutations in genes that regulate the circadian rhythm.

What causes autism-related sleep problems?

Research suggests that the cause of disrupted sleep in people with autism goes beyond poor sleep hygiene habits that disrupt sleep in the general population (Johnson 2008).  Many potentially biological causes are identified from various studies, which likely vary and sometime overlap – in different people.

  • Genetic studies have shown that people with autism are twice as likely as other people to have mutations in genes that regulate the body’s sleep-wake cycle (circadian rhythm). (Yang 2015)
  • Seizures and sleep can worsen each other – undetected seizures during the night disrupts sleep patterns and lack of sleep or insufficient sleep worsens seizure control in people with autism who also have epilepsy. (Accardo 2015)
  • Anxiety can affect sleep. It can interfere with the ability to fall asleep and stay asleep.  Studies suggest that 11- 40% of children and teens with autism struggle with one or more anxiety disorders. (Vasa 2016, White 2009)  It can also set up a worsening cycle with insufficient sleep worsening anxiety and depression.
  • Rapid eye movement (REM) is associated with dreaming, and plays an important role in learning, memory and brain development. Studies suggest that children with autism spend relatively less time in REM stage of sleep than do other children.  Children with autism spent around 15% of their sleep time in REM versus 23% of the other children.  (Buckley 2010).  The importance of REM has created a new interest for scientists to look more broadly at autism-related changes in the neuro-transmitter (brain-signalling molecules) that help control sleep.
  • Melatoni so called the sleep hormone, produced by the brain, is found to be produced at lower levels in people with autism. (Nir 1995, Kulman 2000, Tordjman 2005, Melke 2008) A recent study found there is little difference in melatonin levels between children with and without autism.  It concluded that autism-related sleep difficulties are not solely driven by biological differences. (Goldman 2017)

Fostering better sleep

Neurologist and sleep specialist Beth Malow, of Vanderbilt University Medical Center, has pioneered research-based clinical guidelines for evaluating and addressing sleep disturbances in children with autism, (Malow 2012) as well as programs designed to teach parents strategies for improving the sleep of children with autism. (Malow 2014)

 

Autism and feeding/eating issues

 

Autism-5-Pristine Balance Metanutrition

A defining feature for people with autism is feeding-related problems, as identified by Dr. Leo Kanner in the in 1940s.

It is estimated that 70% of children with autism have feeding and / or eating problems, 36% of these problems were classified “severe” from the point of review of diagnostic records. (Romero 2016)

Caregivers and researchers have long reported that feeding children with autism is often challenging. (Kanner 1943)

Feeding disorder is a term that describes problems with eating enough or eating the right type of food.  Children with autism often eat only a few types of foods—choosing certain textures or colors of food for instance, and / or indulging in disruptive meal-time behaviour.  The causes of the issues are many, including sensory aversions, anxiety (e.g. after an incidence of choking, gagging or vomiting) and rigidity (aversion to change).  Difficulty in chewing and swallowing the food may also be related to motor issues in children with autism.  Digestion problems such as slow stomach emptying may also be a cause.

Eating disorders could also refer to anorexia or bulimia, caused fear of weight gain.  Researchers suggest an overlap between anorexia and autism in some young women. (Wentz 2005)

Chronic overeating is another common problem among both children and adults on the autism spectrum. This could also be a result of poor sensitivity to internal cues such as feeling full.  The aversion to strong flavours, textures and smell can lead to excess consumption of high calorie, low nutrient foods.

In addition, increased appetite is a common and serious side effect of the only FDA-approved medicines for autism-associated challenging behavior (agitation) – risperidone (Risperdal) and aripiprazole (Abilify).  (Maayan 2011, Scahill 2016) The result is a high incidence of obesity – often combined with nutritional deficiencies – in both children and adults on the autism spectrum. (Shmaya 2015, Croen 2015, Hill 2015)

Another feeding disorder associated with autism is eating non-food items such as sharp objects like nails, broken glass and pins as well as poisonous substances such as paint chips, swimming pool chlorine tablets.  This disorder, called PICA, appears among those whose autism is complicated by intellectual disability, and can cause tremendous stress on caregivers as they demand constant vigilance.

Restricted / picky eating

Studies find that 75% of children with autism are highly selective “picky” eaters. (Emond 2010, Beighley 2013, Castro 2016) Studies also suggest that these children are more likely to be underweight and have one or more nutrient deficiencies. (Zimmer 2012, Mari- Bauset 2015)  Care givers /parents need to approach health care professionals who can assess the child’s diet and nutrition and help them with a customized therapy plan.

Overeating and obesity

Unhealthy weight gain starts surprisingly early in life for children affected by autism. (Oregon Health & science university, 2015)  Investigators found that chances of being overweight or obese increased with the number of psychoactive behavioural medicines a child or teen was taking.  (Hill 2015) Weight gain related to behavioural medication is a major concern for specialists in autism health care. (Coury 2014) Dietary approaches such as healthier food choices, monitoring portion size and increasing daily exercise is the first line solution.  High calorie foods can be removed from refrigerators and pantries.  Encouraging family activities such as walking or riding bicycles can help in weight management and has the added advantage of reducing a child’s behavioural problems.

Autism-friendly communication tools and daily schedules while increasing nutrition and exercise help curb overeating, says behavioural therapists. (Ward 2015) People with autism (children, teens or adults) engage less in physical activity when compared with typically developing children. (Rimmer 2007, Rimmer 2008) Social difficulties result in reduced involvement in team and competitive sports.  They prefer more solitary physical activity such as running, bicycling and swimming. (Potvin 2013) It is found that physical activity has the strongest influence among children with special needs. (Yazdani 2013)

Some people with autism may also find difficulties because of food restrictions and increased activity levels.  When behavioural strategies fail, parents find it difficult to choose a child’s physical health and a behavioural medicine that helps them in improving their child’s ability to function on a daily basis.  Long term health consequences like obesity need to be addressed with more research.

Recognizing and treating PICA

PICA can prove deadly as it may result in choking, poisoning, infection or gastrointestinal perforation.  (Decker 1993, Williams 2012) Pica-related problems include broken teeth or other dental problems, constipation, bowel obstruction and chronic lead poisoning.  Researchers suggest that PICA can be decreased with behavioural therapy, if they can identify possible medical causes which need to be ruled out by a physician. (Call 2015).  Medical causes can include nutritional deficiencies in iron or zinc and/or infection with intestinal parasites. Generally, people with pica also need evaluation for possible lead poisoning.

 

Autism and mental health

 

Autism-6-Pristine Balance Metanutrition

 

ADHD, schizophrenia, bipolar disorders and autism are neurodevelopmental conditions that appear to have roots in early brain development. (Munesue 2008, Sikora 2012, Rapoport 2012) Anxiety and depression may stem, at least in part, among people with autism-related impairment that increases daily stress and social isolation, and decreases overall quality of life. (Vasa 2016, Greenlee 2016)

Epidemiological studies suggest that between 54 and 70 percent of people with autism also have one or more other mental health conditions.  (Simonoff 2008, Hofvander 2009, Croen 2015, Romero 2016)

For people with autism, untreated mental health conditions can profoundly worsen behaviour.  The challenging part is the overlapping symptoms, which is more difficult to identify in people with autism. (Levy 2010, Sikora 2012, Miodovnik 2015)  Social withdrawal associated with depression or schizophrenia, for example can be difficult to distinguish from autism-related social impairment.  Expressing the emotions and other internal feelings makes it more difficult to identify in people with autism.

In order of estimated prevalence:

  • Attention deficit and hyperactivity disorder (ADHD) affects an estimated 30 to 61 percent of people with autism. (Goldstein 2004, Lee 2006, Gadow 2006, Romero 2016)
  • Anxiety disorders affect an estimated 11 to 42 percent of people with autism. (Vasa 2016, White 2009, Croen 2015, Romero 2016)
  • Depression affects an estimated 7 percent of children and 26 percent of adults with autism. (Greenlee 2016, Croen 2015)
  • Schizophrenia affects an estimated 4 to 35 percent of adults with autism. (Chisolm 2015)
  • Bipolar disorder affects between 6 and 27 percent of people with autism. (Munesue 2008, Rosenberg 2011, Vannucchi 2014, Guinchat 2015, Croen 2015)

Autism and Attention Deficit and Hyperactivity Disorder (ADHD)

The Centers for Disease Control and Prevention (CDC) estimates that ADHD affects 6-7% of the general population (Perou 2013).  Studies from the last decade suggest that between 30-60% of people with autism also have symptoms of ADHD. (Goldstein 2004, Lee 2006, Gadow 2006, Romero 2016)

Geneticists have found that many of the gene variations that increase autism risk also the increase risk for ADHD. (Lionel 2011)

Hyperactivity, inattention and / or impulsivity that interferes with daily life, social development and learning are few persistent patterns of symptoms of ADHD.  Close attention to detail and careless mistakes at school or work often occur among people with ADHD.  Inattention is often observed, they don’t appear to listen when spoken to or have trouble organizing tasks and do not follow through with the instructions and assignments, especially those which require sustained attention. (DSM- 5 2013)

More than 3,000 patients, aged between 2-18 were observed deeply for autism and ADHD symptoms in Autism Speaks Autism Treatment Network. (Sikora 2012)  Multiple symptoms of ADHD were found in more than half these children and teens with autism.  Further evaluation showed that a combination of ADHD and autism symptoms resulted in significantly worse health, daily function and overall quality of life.

In 2013, the American Psychiatric Association specified that a person could be diagnosed with either autism or ADHD, but not both. (DSM-IV 2004) Later in 2013, the association changed its guidelines to allow diagnosis of both conditions in one person. (DSM-5 2013). Diagnosis of either one of these disorders tends to significantly delay the treatment of the other. (Miodovnik 2015) Impaired social development and difficulties with attention, learning and communication remains challenging to distinguish among people with autism and ADHD.

The journal Pediatrics published the first guidelines on the evaluation of ADHD among children and teens with autism, together with guidance on selecting and evaluating the best ADHD medication for those patients. (Mahajan 2012) It includes evaluating the benefits and side effects of ADHD medication depending on their dosages, in consultation with the family.  The emphasis here is on the highly personal nature of such medication, and the necessity of involving the individual and / or parents in evaluating goals and needs.

Autism and anxiety

One or more anxiety disorders is seen in 11-42% people with autism, as per the studies. (Vasa 2016, White 2009, Croen 2015, Romero 2016)  By contrast, CDC estimates that anxiety disorders affect 3% of children and 15% of adults in the general population. (Perou 2013, Kessler 2009)  Disorders include separation anxiety, panic disorders and phobias (extreme fear of certain noises, places and so on).

For many children with autism, anxiety increases in adolescence.  Social anxiety or extreme fear of meeting new people, crowds and social gatherings/ situations is especially seen amongst people with autism.  (Bellini 2006) Case studies suggest that anxiety remains high throughout life. (Gillott 2007, Moss 2015)

It is also seen that though symptoms of anxiety disorders may be absent in many people with autism, they have difficulty in controlling anxiety once something triggers it.  Anxiety is wrapped around autistic behaviour such as difficulty in navigating social situations and extreme sensory sensitivity to loud noises, lights, certain tastes and smells.  “Anticipatory anxiety”, produced when simply anticipating or otherwise thinking about an anxiety, can also trigger extreme anxiety.  Another reason or source of anxiety involves the need for routine or sameness.  Lack thereof can produce anxiety in the face of changes in schedule or familiar people – for example a new teacher aide or even store clerk.

Research on anxiety in autism has been focused on children and adults who are verbal and have normal to high intelligence.  Experts agree that there is need for more studies among people with autism who are non-verbal or minimally verbal and / or have intellectual disability.

Identifying and treating anxiety

It is known that people with autism have trouble assessing and expressing how they feel. Their behaviour often provides the best clues to underlying anxiety.  The impact of anxiety can trigger strong internal sensations of tension that include a racing heart, muscle tightness and stomachache.  These strong feelings can prompt an increase in self soothing, repetitive behaviour (flapping, rocking, spinning, etc.) and / or destructive or self-harming behaviour (shredding clothing, head banging etc).  Anxiety can be cause of new resistance to what had been an enjoyed activity (a trip, a birthday party, school, etc.).

The first guidelines were published in 2016, in the journal Paediatrics.  The treatment must be personalized depending on the level of the patient, which may also include language level and intellectual ability, which influences cognitive behaviour therapy. (Wood 2009, Drahota 2011, Wood 2015)

Cognitive behavioural techniques include challenging negative thoughts with logic, role playing, modelling courageous behaviour and gradual exposure to feared situations.  Gradual exposure can start with looking at a related picture.  This approach includes the use of visual aids, which have a strong impact on people with autism.  The therapist may use a favourite cartoon character to model coping skills.  It is also seen that people with autism respond strongly to the logic in cognitive behavioural therapy.  This therapy has proven effective, especially among those who are verbal and have normal to high intelligence. (Wood 2009, Wood 2015, Hepburn 2016)  Researchers are working on modifying the approach for those with intellectual disability with little or no verbal language. (Danial 2013)

Autism and depression

It is estimated that 7% of children and 26% of adults are affected with depression. (Greenlee 2016, Croen 2015) The journal of Pediatrics found that depression rose dramatically with age from just under 5% in a grade schooler to just over 20% in teenagers. (Greenlee 2016) Likewise with intellectual ability (IQ) – the presence of one or more medical conditions accompany autism, particularly seizures and gastrointestinal issues.  Depression has a profound effect on overall quality of life which rise with age and medical conditions.  Screening for depression as a routine part of care for people with autism particularly those with normal to high IQ and also with those who have additional medical issues.

Identifying depression

Chronic feelings include, sadness, hopelessness, worthlessness, emptiness and / or irritability.  Social isolation, moving or talking slowly, feeling restless and having trouble sitting still or concentrating are a few other common things identified in depression.  Thoughts about death and / or suicide is at most serious in depression.

As it is well known, identifying depression is a challenge among people with autism. (Gotham 2015) Having a “flat” or unemotional, facial expression for example, is a common trait of both autism and depression. So too is irritability and social isolation.  Difficulty in identifying and expressing how they feel, is the most challenging part for people with autism.  Specialists have been developing and testing revised methods for identifying depression among people in the autism spectrum. (Streling 2015)

autism-depression-anxiety

Treating depression

Cognitive-behavioral therapy has shown promise for treating depression in people with autism. (Kuroda 2013) This work builds on a much larger body of research using an autism-modified version of cognitive behavioral therapy for extreme and chronic anxiety. There are no FDA-approved medications specifically for depression in patients who have autism, so psychiatrists typically prescribe those used for the general population. More research may be warranted given a 2011 study suggesting that patients with autism are more likely to experience antidepressant side effects. (Boyd 2011) The most common of these include sleepiness, agitation, increased irritability, restless leg syndrome and gastrointestinal problems.

Autism and schizophrenia

In the 1960s, psychiatrists referred to autism as a subtype of childhood schizophrenia. (DSM II 1968) A clear distinction between the two conditions was made in the year 1990. (Rapoport 2009) Interestingly they share many biological similarities. Both appearing to have roots in prenatal brain development. They share similar prenatal risk factors including maternal inflammation and infection as well as advanced parental age at the time of conception. (Patterson 2009, Menon 2011, Insel 2010) Research has also identified many common genetic risk factors. In other words, many of the same gene changes are known to increase autism risk also increase the risk of schizophrenia.  (Guilmatre 2009, McCarthy 2014)

Autism and schizophrenia both involve impairments in processing language and understanding other people’s thoughts and feelings.  Clear differences include the schizophrenia’s hallmark psychosis, which often involves hallucinations.  Autism core symptoms emerge between 1-3 years, schizophrenia is in early adulthood.

The studies found schizophrenia in 4-35 % of adults who have autism and found autism in 4-60% of those who have schizophrenia. By contrast, schizophrenia affects an estimated 1.1 percent of the general population, and autism affects an estimated 1.5 percent. (NIMH/Regier 1993, Baio 2014)

Autism and bipolar disorder

Bipolar disorder is a mood disorder once known as “manic depression.” People with bipolar disorder tend to alternate between a frenzied state known as mania and episodes of depression. While some people experience only the manic episodes, most alternate between these two states and can show extreme irritability.

People with autism are at increased risk of bipolar disorder as per the researchers. (Munesue 2008,  Rosenberg 2011, Vannucchi 2014, Guinchat 2015) Prevalence of bipolar disorder ranges from 6-27%  among people with autism.  Bipolar disorder affects 4% of the general population (Kessler 1994)

Some leading experts propose that bipolar disorder may be over-diagnosed in those who have autism, due to overlapping symptoms such as hyperactivity, irritability and disturbed sleep. (Witwer 2014) For example, a child with autism may be consistently high-energy and socially intrusive through childhood. As such, her tendency to talk to strangers and make inappropriate comments are likely a consistent part of her autism, not symptoms of a manic mood swing.

 

Treatment of bipolar disorder in autism

Some bipolar disorder medications can be problematic and even dangerous in someone who has difficulty recognizing and expressing feelings – as is common with autism. Lithium, for example, can in rare cases produce life-threatening toxicity. Anti-seizure, mood-stabilizing medication such as valproic acid may be a safer treatment for those with autism. (Witwer 2014) In addition, the antipsychotics risperidone and aripiprazole are both FDA-approved to treat irritability in children with autism, though both tend to produce significant weight gain and diabetes risk.

Nutrition Management During Pregnancy: Urea Cycle Disorder

Nutrition Management During Pregnancy: Urea Cycle Disorder

Nutrition-Management-During-Pregnancy-Urea-Cycle-Disorder-Balance-Metanutrition

What is Urea Cycle Disorder?

Urea cycle disorder (UCD), also known as hyperammonemia or hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, is caused by a deficiency of Ornithine translocase. This occurs when ammonia gets accumulated in the blood because of an absence of the enzyme ornithine translocase.

Pregnancies in Urea Cycle Disorders

Women with UCD are especially at risk for metabolic decompensation during the first trimester when poor energy intake is common, during any intercurrent illness, with prolonged delivery, and in the postpartum period.

Nutrition management necessitates:

Maintaining normal maternal weight gain

Weight gain goals are the same for pregnant women with inborn errors of metabolism as for the general population. Weight loss should be avoided since this can cause protein catabolism and elevated amino acid concentrations. Energy needs increase as the pregnancy progresses, especially in the latter part of pregnancy when fetal growth is the greatest.

Maintaining adequate energy and protein nutriture throughout

As the pregnancy progresses an adequate amount of energy is needed for maternal and fetal growth. To prevent protein deficiency, any woman prescribed for a medical diet prior to pregnancy will need to continue this throughout her pregnancy. If the medical diet has been stopped for some reason, reintroduction of the diet is required, even if a woman has a milder form of the disorder.

Maintaining plasma amino acid concentrations within the normal range and anticipating a higher intact protein tolerance as pregnancy progresses

As with total protein, the needs for individual amino acids increase as pregnancy progresses, especially in the late second and third trimesters when fetal growth is the greatest. Frequent monitoring of the plasma amino acids levels is necessary, and, if low, an increase in the amount of intact protein is prescribed to maintain the restricted amino acids in the normal range.

Planning for intercurrent illness and complications affecting dietary intake

As with any pregnancy, persistent nausea, vomiting and intercurrent illness can occur. For women with intoxication disorders, these catabolic events need to be addressed to prevent increasing concentrations of amino acids and toxic metabolites. A plan for any needed admission should be established ahead of time and emergency protocols updated.

Constant contact with a specialist obstetric clinic

Given the risk of metabolic decompensation during pregnancy and postpartum period, women with amino acidopathies or urea cycle defects should be followed by an obstetric clinic specializing in high-risk pregnancies. Frequent assessment of fetal growth is also needed. For successful maternal and fetal outcomes, a multidisciplinary approach is required with input from both obstetric and metabolic teams.

Anticipating postpartum catabolism

Delivery and postpartum period are catabolic processes. The risk for decompensation increases in women with UCD if the delivery is prolonged or a sufficient source of calories and protein equivalents not provided during delivery and the postpartum period.

Good nutrition management during a pregnancy is essential to avoid dysmorphology, microcephaly, cardiac defects, or developmental delays.