Autistic spectrum disorders -medical aspects

1. Autistic spectrum disorders -medical aspects Jo Swallow Mary Valentine Adaptation from Rosemary Jones (paediatrician)

2. Session plan • The curious incident of the dog in the night time. • Ways in which children present • Our role as part of the diagnostic team • Routine clinic assessments, use of DISCO and 3Di • Research findings about causation and treatment – including MMR and diet • Medical conditions associated with an increase in autistic spectrum disorders • Common co-morbidities

3. Autism • National Autism Plan for Children, 2003 • National Service Framework for Children • NIASA – National Initiative for Autism: Screening and Assessment

4. Who do they present to?

5. Referral from health visitors Nurseries School nurses Primary school SENCOs Secondary school tutors GPs Directly from parents Not speaking, poor eye contact, ? Deaf Not speaking, poor interactive play, repetitive behaviours Won’t co-operate with screening tests, not following classroom routines Not following routines, in a world of their own, odd behaviours Target of bullying, rude to staff, good at some subjects, problems with literacy Parents at the end of their tether Problems with sleeping or feeding Concerns they may be deaf Friend has a similar child who has a diagnosis of autism Found name via National Autistic Society Worried about effect of MMR Who refers + why

6. The red flags for autism • Communication concerns: • Does not respond to his name • Cannot tell me what he wants • Language is delayed • Doesn’t always follow directions • Appears deaf at times • Seems to hear sometimes but not at others • Doesn’t point or wave goodbye • Used to say a few words, but now doesn’t

7. The red flags for autism • Social concerns • Doesn’t smile socially • Seems to prefer to play alone • Gets things for himself • Is very independent • Has poor eye contact • Is in his own world • Tunes us out • Is not interested in other children

8. The red flags for autism • Behavioural concerns: • Tantrums • Is hyperactive/unco-operative/oppositional • Doesn’t know how to play with toys • Gets stuck on things regularly • Toe walks • Has unusual attachments to toys • Lines things up • Is oversensitive to certain textures or sounds • Has odd movement patterns

9. The red flags for autism • Absolute indications for immediate further evaluation: • No babbling by 12 months • No gesturing (pointing, waving, bye-bye etc) by 12 months • No single words by 16 months • No two-word spontaneous (not just echolalic) phrases by 24 months • Any loss of any language or social skills at any age

10. Asperger syndrome • Kanner described autism, Asperger described a similar syndrome • Most people feel that there are different degrees of same problem and refer to “autistic spectrum disorders” • ICD 10 criteria are different for Asperger syndrome however • Children seem to develop language normally at first • For diagnosis need to identify problems in 5 out of 6 areas: • Social impairment • Non-verbal communication • Narrow interests • Higher order language • Repetitive routines • Motor clumsiness • Asperger syndrome – IQ likely to be normal

11. The paediatrician’s role • To co-ordinate a multi-disciplinary assessment • Nursery or classroom observation • Social communication • Social interaction • Imaginative play • Observe any motor stereotypies, insistence on routines, attention span

12. age Chronological age Fine motor/ vision Language Interactive/personal social skills Gross motor

13. Physical examination and investigations • Most autistic children are very healthy • Food fads may affect growth – so height and weight are plotted • Examination to look for features of a syndrome which may be associated with asd • Eg tuberous sclerosis, fragile X • Examination to screen for associated conditions – eg dyspraxia • Check vision and hearing • MRI (brain scan) if dysmorphic features – not routine • Other investigations if clinically indicated • Eg full blood count, lead levels, liver function, chromosomes

14. Process of diagnosis • Is the triad present? • Type of social impairment (aloof, passive, active but odd) • What is level of ability (language, visuo-spatial)? • Are there other disabilities (developmental, physical, psychiatric)? • Particularly look for ADHD, Tourettes, Dyspraxia • Is there an identifiable cause? • What is the family and social situation?

15. Factors affecting the clinical picture • Age: • Picture may change throughout childhood • Difficult to predict where on the spectrum a child will be at a certain age • Young non-verbal children are very difficult to assess

16. Factors affecting the clinical picture • Gender • Boys • Greater social difficulties • Disruptive • Aggressive • Girls • Relatively more able socially • Socially immature rather than odd • Suffer in silence

17. What causes autism? • Absence of any strong consistent evidence for an • Environmental cause eg MMR • Biochemical cause eg Lead, organophosphates • Dietary cause – eg casein or gluten • Neuro-anatomical cause – huge variety of brain abnormalities shown on MRI scans, none diagnostic • Strong influence of genes has been known since the mid 1970’s • Twin studies • Several chromosomes implicated including X chromosome

18. Genetic inheritance of asd • Specific genes yet to be identified • Susceptibility genes • Genetic heterogeneity – very likely to be more than one complex genetic form of autism • No genetic test yet – possible susceptibility test in 5 years • ? Need environmental interaction

19. The chances of recurrence • Parents more likely to exhibit mild autistic phenotypes • 15% of fathers of children with asd have Asperger’s Syndrome (often diagnosed later) • Fathers and grandfathers of children with autism are twice as likely to be engineers • Brothers of a child with autism have a 7% risk for autism and an additional risk of 7% for milder autistic spectrum symptoms • Sisters have a 1% risk, risk for milder symptoms is unknown

20. Is MMR the culprit? • How might MMR be linked to inflammatory bowel disease? • Measles in bowel? - not confirmed • Increase incidence after MMR? - not confirmed • Why has MMR been linked to Autism? • 1998 - paper in Lancet, case histories of 12 children. Conclusion - “we did not prove an association between MMR and the syndrome described”

21. MMR and autism - 2 • Why might parents link MMR with autism in their child? • Because there is a temporal link • Is there any evidence for or against link? • Changing incidence? - suggested increasing incidence started before MMR and did not change after introduction of MMR • In Japan, where MMR withdrawn because of worries about the mumps component, the incidence of autism continued to rise at same rate as before • Difference between immunised and non immunised children? - none found

22. Medical conditions which may cause autism • Genetic • Tuberous sclerosis • Viral infections • Congenital rubella, Cytomegalovirus • Herpes encephalitis • Metabolic disorders • Congenital syndromes

23. Medical conditions which may cause autism • Physical syndromes that may be accompanied by a spectrum disorder • Typically no autistic features but ASD can sometimes be associated • Down Syndrome (probably 10% have ASD) • Typically these have some but not all features found in ASD, though the full syndrome can occur • Fragile X Syndrome, William’s Syndrome, Turner’s Syndrome, Neurofibromatosis

24. Research findings on treatment - secretin • The hormone, secretin, is naturally present in the pancreas • A deficiency is thought to signify digestive problem • Patients on the autistic spectrum have been injected with secretin for these digestive problems and initially they seemed to improve their social and language skills • Recent studies, however, cannot repeat the earlier success and do not show an effect • Secretin is not licensed by the medicines control agency

25. Research findings on treatment - diet • Dr Michael Tettenborn, of Frimley Children's Hospital, claims there is a link between autism and food intolerance – especially milk and wheat • In some patients this may also involve the yeast infection candida • Following treatment for the candida and an elimination diet, he maintains he has successfully treated several patients and has seen them largely overcome their autism • The regime needs strict medical supervision, says Tettenborn, and patients sometimes get worse before they get better • Theory is that peptides escape across a damaged gut and affect the brain

26. Research findings on treatment - fish oils • Omega 3 long chain polyunsaturated fatty acids • Mackerel, salmon, herring, sardines, rape seed • Cell membranes of nerve cells consist of fats, approx 20% are essential fatty acids • DHA – docosahexaenoic acid – makes cell membranes more elastic allowing ions to move through channels • EPA – eicosapentaenoic acid – functional role, improves blood flow

27. Research findings on treatment - fish oils • Durham Study • Randomised controlled trial of fish oil v. placebo • 117 children with Developmental co-ordination disorder • No effect on motor skills was apparent • Significant improvement in reading, spelling and behaviour • Need more research in children with ADHD • Anecdotal evidence of improvements in ADHD • No real evidence in autism

28. Common co-morbidities • ADHD • Inattentive, impulsive and hyperactive • May cause secondary learning difficulties • Dyspraxia • Usually associated with Asperger syndrome • Seizures • Association with grand mal seizures • Probably about 10%

29. Common problems in older children • Rage episodes • May require drug treatment (atypical anti-psychotics) • Self harm • Increased incidence of depression in more able adolescents • Inappropriate social behaviour leading to risk of under-age pregnancy

30. In summary • Autistic spectrum disorders are common • There is no clarity about causation but there is a large genetic component • The picture may change with age • Early diagnosis and support helps both the child and the family to manage the condition better • Most autistic children are fit and well • Some have other conditions that will affect school progress and learning