WHAT GENERAL PAEDIATRICIAN NEED TO KNOW ABOUT AUTISM?

Huda Sadek

Consultant Neurodevelopment Pediatrician

Out Lines

Case scenarios

Medical comorbidity

Challenges in assessment

Approaching an autistic child

Take home message

Case 1

■ 2 y 9m

■ Attended General paediatric clinic for possible epilepsy (Myoclonic Jerks)

■ Daily episodes of stretching and stiffening of arms and legs. At times holds her breath or flap hands and shakes head, stands for a couple of minutes staring into space and laughs. Can be distracted.

■ “Sometimes eyes look like if she is concentrating on some thing or having an imaginary friend”.

■ Investigated for epilepsy

Case 1

■ Development : No concerns

■ Talks well but some times uses her own words that only family know.

■ Does not show “pretend play” ( does not play with Barbie)

■ Does not like “dressing up play” to be a Disney Character

■ Has specific routine and non-functional ritual

Case 2

■ 6 years

■ Seen in paediatric clinic for persistent Pica despite correction of iron deficiency anaemia. He eats: cotton wool , blankets, socks and pillow fillings

■ Fussy eater with restricted diet

■ Has constipation.

■ Materials and fibres were often seen in stool.

■ Struggles with his sleep

Case 2

■ H/O developmental delay, received initial support but then discharged as he made some progress.

■ School has significant concerns: regressed skills and academic deterioration.

■ Deterioration of behaviour, became aggressive with no clear triggers and self harm.

■ No friends, find it hard to join other children’s play

■ Vacant episodes noted by school teacher and inability to tolerate routine changes without preparation

■ Does not like Mario toys and stickers

■ Enjoys touching things with certain texture, particularly squeezing blue tac. Touching blankets and cloths.

Recent studies confirmed significant increase in mortality in autism compared to general population (Bilder et al., 2012, Woolfenden et al., 2012)

These deaths tend to be the result of

medical comorbidities, such as

epilepsy, gastrointestinal conditions

and respiratory disorders (Shavelle et

al., 2001; Pickett et al., 2006; Gilberg

wt al2010).

One third of adults with high functioning ASD report that they do not

receive appropriate medical care for physical health problems

(Nicolaidis et al.,2012). Those with sever ASD is likely to receive even

more suboptimal care.

Atopy

Concurrent medical conditions and health care use and needs among children with learning and

behavioral developmental disabilities, National Health Interview Survey, 2006–2010 Original Research Article

Research in Developmental Disabilities, Volume 33, Issue 2, March–April 2012, Pages 467-476 Laura A. Schieve, Vanessa Gonzalez, Sheree L. Boulet, Susanna N. Visser, Catherine E. Rice, Kim Van Naarden Braun, Coleen A. Boyle

1. Children with disability are :

1.8 times more likely to have asthma than normal children 1.6 times more likely to have eczema

1.8 times more likely to have food allergy

2.1 times more likely to have ear infection

3.5 times more likely to have frequent diarrhea

2. Children with autism were twice as likely as children with

other disabilities to have frequent diarrhea

http://www.sciencedirect.com/science/article/pii/S0891422211003878http://www.sciencedirect.com/science/article/pii/S0891422211003878http://www.sciencedirect.com/science/article/pii/S0891422211003878http://www.sciencedirect.com/science/article/pii/S0891422211003878

Atopy

■ Atopy in general is more common in autism, especially asthma, eczema, food intolerance

■ Both IgE and none IgE mediated allergic Rnx are causative factors for anxiety, mood disturbance, difficulty in focusing, irritability, day time fatigue and sleep disorders in both children and adults. Medical comorbidities in ASD

Children with learning disabilities, hyperactivity, fatigue, irritability who suffer from atopy

symptoms showed marked improvement in their ability to learn, reduced hyperactivity and

incoordination when their atopy symptoms were treated (Chen et al., 2013, Croen et al., 2014;

Kohane et al., 2012)

GIT

May 2014, VOLUME 133 / ISSUE 5

Gastrointestinal Symptoms in Autism Spectrum Disorder: Meta-analysis

Barbara O. McElhanon, Courtney McCracken, Saul Karpen, William G. Sharp

Abstract

BACKGROUND: In pediatric settings, parents often raise concerns about possible gastrointestinal

(GI) symptoms in autism spectrum disorder (ASD), yet the specificity of these concerns are not well

studied. RESULTS: Children with ASD experience significantly more general GI symptoms than comparison

groups, with a standardized mean difference of 0.82 (0.24) and a corresponding odds ratio (OR) of

4.42 (95% CI, 1.90–10.28). Analysis also indicated higher rates of diarrhea (OR, 3.63; 95% CI, 1.82–7.23), constipation (OR, 3.86; 95% CI, 2.23–6.71), and abdominal pain (OR, 2.45; 95% CI, 1.19–5.07).

http://pediatrics.aappublications.org/content/133/5

GIT

■ Strong correlation between gastrointestinal symptoms and severity of autism

(Adams et al.,2011; Gorrindo et al., 2012; Wang et al.,

2011)

■ Gastrointestinal problems are significantly over-represented in ASD and can often be related to problem behaviors, sensory over-responsitivity, dysregulated sleep, rigid compulsive behavior, aggression, anxiety and irritability. (Chaidez et al., 2013, Chandler et al., 2013)

GIT Problems

Commonest GIT problems:

■ Constipation

■ Chronic diarrhea

■ Food refusal - Children with ASD and learning disability display more behaviorally-based feeding issues than like food selectivity and refusal behaviors than those with learning disability alone. (Fodstad & Matson 2008)

■ Food intolerance

Autism and Epilepsy

Autism and Epilepsy

ASD, LD & Epilepsy

Commonest Seizure Types

Generalized Tonic Clonic

Focal seizure

Focal progress to generalized

ASD LD

E

P I L

E P

S Y

Autistic Behavior vs Seizure

Behavioral

■ Looking through

■ Looking at certain point

■ Not responding (vacant episode)

■ Body Stiffness

■ Body mannerism

Seizure

■ usually has a pattern fit into a clear epileptic phenomenology.

■ Post ictal period

■ Clear alteration or absences of consciousness

• Detailed description, Video recording • EEG only if highly suspected seizure

Autism and Epilepsy

Richard E. Frye, M.D., Ph.D., Arkansas Children’s Hospital Research Institute, Little Rock, AR And TACA Physician Advisory Member

Sleep Disorder

• 80% of children with ASD has problem with sleep

• The single most important predictor of autism severity and presence of co-morbidity

• it is associated with intensity and frequency of family stress.

• Increase behavioral problems: make it worse: such as stereotype behavior, hyperactivity and inability to focus and

short attention span or create new behaviors: self injury,

aggression, etc.

Sleep Disorder

Sleep cycle

Melatonin Cycle

Sleep Disorder

■ Exclude medical underlying cause.

■ Develop bed time routine

■ Maintain sleep environment is essential for good sleep

■ Physical activities during the day

■ Stop day nap.

Sleep Disorder

1.11 Interventions for sleep problems

■ 1.11.1 Consider behavioural interventions for sleep problems in children, young people and adults with a learning disability and behaviour that challenges which consist of:

– A functional analysis of the problem sleep behaviour to inform the intervention (for example, not reinforcing non-sleep behaviours)

– Structured bedtime routines.

■ 1.11.2 Do not offer medication to aid sleep unless the sleep problem persists after a behavioural intervention, and then only:

– After consultation with a psychiatrist (or a specialist paediatrician for a child or young person) with expertise in its use in people with a learning disability

– Together with non-pharmacological interventions and regular reviews (to evaluate continuing need and ensure that the benefits continue to outweigh the risks).

– If medication is needed to aid sleep, consider melatonin. NICE Guidelines, May 2015

Genetic Conditions

■ No single gene is identified for autism

■ 20 out of the 23 chromosomes have identified areas related

to autism

■ 15-20% genetic test is positive- Microarray is the test of choice

■ Fragile x

■ Trisomy 21

■ Ch 15, 7 and 2

■ NF, MS, MD

Assessment of Co-morbidities

Deterioration in autism

Change in behavior

Comorbidity trigger

Clinical Assessment of A Child with Autism

Consensus report from the AAP

““Care providers should be aware that problem behavior in patients with ASDs may be the primary sole symptom of the underlying medical

condition, including some Gastrointestinal tract disorder”. ” (Buie et al., 2010)

Alarming Symptoms

Sudden change in behavior

Irritability and low mood

Tantrum and oppositional behavior

Change in sleep pattern (sleep disturbance)

Posturing or seeking pressure to specific area.

Aggression

Self injury

Mouthing, repetitive rocking, covering ears with hands or any other new repetitive movement

Agitation Vocal expressions

Behavior around evacuation

Medical Comorbidities in Autism Spectrum Disorder 2014

Possible Pathology

Constipation

GOR

Gastritis

Food intolerance

Earache

Headache

Toothache

Allergic rhinitis

Sore throat

Seizure disorder

Bone Fracture

Cases from Experience

■ Constipation not optimally managed- is a common scenario

■ 4 years old child with autism slow in climbing up and down stairs, during development assessment noted to be slow in hand function but no difficulties, referred to ophthalmology, has severe degree of congenital astigmatism, glasses prescribed, got better.

■ 8 years with autism and severe learning disability. Change in behavior, hyperactive and irritable: on examination: Swollen lateral side of foot – metatarsal fracture

Cases from Experience

■ 15 years with autism, bipolar, sever LD referred for assessment in order to establish service, was hyper, self harm attitude. noted to be limping. Examination was fine , X - Ray of left hip revealed slipped capital femoral epiphysis.

■ 7 years old with autism and intractable epilepsy, has VNS in situ. Presented with disruptive behavior, agitation, and over activity. Physical examination unremarkable. Behavior improved when VNS readjusted.

Clinical Assessment of a Child with Autism

■ Appropriate detailed medical assessment is essential in all children with disability, especially autism .

■ These vulnerable group of children, not only subjected to medical problems but also to abuse.

Challenges in Assessing Autistic Child

1. Communication barrier between parents and their ASD child

2. Misleading interpretation of symptoms/behavior from parents

3. History gathering from the child is difficult

4. Behavioral symptoms mostly assumed is related to autism it self.

in a survey (2009) conducted by treating autism Team , 70% of children with ASD has comorbidity and that was attributed to autism.

Challenges in Assessing Autistic Child

5. Atypical presentation/ symptoms

6. High pain threshold

7. Limited physical examination due to phobia and hypersensitivity

8. Distraction in the thinking flow

9. Investigation might not be possible without sedation.

Assessing an Autistic Child

■ Comfortable/friendly environment, no queue and separate area. ■ Conformable positioning ■ Allow time for the child to settle ■ Soft approach ■ Talk to the child ■ Do what is possible first ■ Distraction technique ■ Examine as much as you can ■ Examine when a sleep

Approaching a Child with Special Needs

Take Home Message

■ What used to call autistic behavior is not necessarily an autistic behavior.

■ Behavioral symptoms such as self harm, aggression, change in appetite, strange posture could be the only symptom for underlying medical condition .

■ Trust parents, verify the history

■ Extensive and thorough assessment is required

■ Treating co-morbidities is very rewarding

■ Keep child abuse issue always in the back of your mind

References

1. Medical comorbidities in autistic Spectrum Disorder , March 2014

2. Comorbidity in autism spectrum disorder: A literature review (2013), Elsevier; 1595-1616.

3. Gastrointestinal Symptoms in Autism Spectrum Disorder: A Meta-anaylysis.

Pediatrics. April 2014

4. Comorbid Psychiatric Disorders in children with autism, Autism development disorder (2006) 36:849-861

5. Hara H. (2007) Autism and epilepsy. Brain Dev. Sep; 29(8):486-490.

6. A systemic Review of two outcomes in autism- epilepsy and mortality, Development medicine and child neurology, Oct 2011

7. Challenging behavior and learning disabilities NICE Guidelines, May 2015

Autism speaker, www.autismspeakers.org.uk

http://www.autismspeakers.org.uk/