Paediatric Neurodisability

Dr Louise GrantWest Centre

Glasgow

Child Development Centre

• Age 0-19y multi-disciplinary service• Neurodisability / Neurodevelopmental problems, including:• Cerebral palsy (another talk)• Autism Spectrum Disorder• Chromosome / genetic problems eg Down Syndrome• Ex-prems• Learning disability – for investigation and diagnosis (neurofibromatosis, Prader-Willi)

only• Not sleep alone or behaviour alone• Different to CAMHS service (altho we can share patients)• Don’t follow-up forever, unless there is a medical reason

Autism

• Girl, age 3y• Referred with language delay, challenging behaviour, won’t sleep, eats

non-foodstuffs (paper, dishwasher tablets, cat food)• Born at term. General health good. Lives with both parents, no sibs.• No signif PMH.

Autism – Social Communication

• Language delay: single words (“Juice”) but not “mummy” or “daddy”• Echoes• Quotes phrases from Disney film “Frozen”• Doesn’t answer to own name• Place parent’s hand on something to get them to operate it• Doesn’t make up for language delay by using gesture• Likes to line up toys and acts out scenes from Frozen• But no spontaneous make-believe play

Autism – Social Interaction

• Does not use eye contact or facial expression when “interacting”• Nursery report she prefers solitary play. Will move away when other

children approach. • Doesn’t understand emotions:• Cries at small things eg if parents sit in the “wrong” seats at home• (Didn’t cry when crushed finger in the door)• Is interested when other people cry and will hit them to get response• Behaviour: Tantrums in church, takes clothes off in shops • Will run to Anna doll in shop but doesn’t show mum

Autism – Interests and behaviour

• Narrow interests: Frozen and cats• Routines and rituals: • Must go to nursery by same route. Can’t stop off at shops.• Watches same Ed Sheeran video over and over again. If interrupted, must

start it from the beginning. • Only eats white food (constipated) and knows if different brand• Stereotypical movements: flaps hands when sees a cat. Spins round and

round every night after dinner. • Fascinated by parts of objects – pencil top held up to eye• Sensory issues – hold ears if loud noise

Autism – Paediatrician’s Role

• Developmental assessment• Diagnosis (differential diagnosis eg Rett’s, fragile X, foetal alcohol)• Investigations (developmental impairment screening bloods)• Check hearing and vision normal• Sort out associated medical problems – sleep, diet, constipation• Signposting – social work, National Autistic Society, education• www.autism.org• www.enquire.org (Education)

Asperger’s Syndrome

• Boy, age 10y• Could read age 2 but problems listening at school. Can’t follow

instructions.• Bullied at school. • Walked early, didn’t crawl. Now clumsy, can’t ride a bike, handwriting

messy.• Doesn’t sleep• Thin. Picky eater. Doesn’t like foods touching on plate, won’t eat fruit or

veg. Meat must be a particular brand – checks bin. • Mum thinks he has Asperger’s, but he “looks normal”

Asperger’s Syndrome – Social Communication• Very chatty. Talks about Star Wars and game show “Pointless” a lot.

Knows every detail. Interrupts adults. Loud. • Slight English accent (always lived in Drumchapel)• Doesn’t ask other person for info – not to-and-fro conversation. • Unusual (stereotyped) phrases eg “You have not defied the odds”• Can play with action figures but only if he makes it a Star Wars story

Asperger’s Syndrome – Social Interaction• Good eye contact (altho can be intense / staring)• Does use gesture but over-the-top / pantomime gesture• Wears a serious, puzzled look, but can show extremes of facial

expression• Thinks he has friends but they treat him badly • Doesn’t comfort people when they are upset (emotions). Can be

rude without knowing – told the lady on the bus she was too fat for her seat (can’t regulate behaviour).

Asperger’s - Interests and Behaviour

• Obsessed with Star Wars and Lego (especially Harry Potter)• “Adult” interests: “Why have Lloyds TSB split up, d’you think?”• Routines and rituals: • Must get dressed in certain order• Went mental when Dad was ill and couldn’t take him to get new Star Wars

computer game• Refuses to go to non-uniform day or school trip• Repetitive motor mannerisms: has facial tics (stutter when younger) and

toe-walks• Sensory issues: Can’t wear jeans – too scratchy

Asperger’s Syndrome - Help

• Diagnosis – “helpful label”• Unhelpful labels – “rude”, “weird”, “stupid”• Helps young person and those around them to understand them• Different approach to learning at school• Advice from SLT• Occupational therapy – clumsiness, handwriting, sensory issues• At risk of mental health problems• Teen / adult help: ARC (Autism Resource Centre), Bridgeton• May look “normal” in a 10 min GP consultation

Down Syndrome - Problems

• Developmental impairment / learning disability• Cardiac – AVSD usually• Hypothyroidism (Coeliac’s, arthritis)• Leukaemia• Sleep problems• ENT problems• GOR / feeding problems• Vision problems• Pulmonary hypertension – can develop late (GP)

Down Syndrome – Case History

• Boy, now age 7• First seen at West Centre at a few months of age• Small ASD (usually AVSD with Downs)• GOR• Slept in unusual position and snored – abnormal sleep study• Adenotonsillectomy• Swallowing and reflux worse• Videofluoroscopy – laryngeal cleft, liquid up into nose• Green snot, nocturnal cough, FH of asthma

Down Syndrome - Cont

• Respiratory referral – some bronchiectasis• 2 weeks of antibiotics with colds – at risk of lung probs• Liquids all thickened. Normal solids.• Ranitidine (risk of pneumonia with omeprazole?)• Low tone – sore legs• Poor sleeper – sleep study normal – melatonin?• Attends special school – gets very tired during the day• Thyroid normal so far – checked annually

Case history – Ex-prem

• Girl, born 24/40• Stormy neonatal course. Very bad lung disease. Home oxygen.• Behind in milestones, especially gross motor. • Not walking age 18 mo corrected• Normal tone. Hips normal. • Green teeth – due to drug for sepsis

Ex-prem- Follow-up

• Poor attender• Hospital admissions with chest infections• Parents getting married• Another preterm baby born to family• Age 2y 6mo – cruising, off home oxygen • Very tired, pale, poor growth• Talking in sentences “Can I go to bed?”• Seen by lots of consultants and by her GP numerous times• Referred for sleep study - ?needs oxygen at night?

Ex-prem – Pulmonary Hypertension

• Age 3y• Very tired, pale, poor growth• Walking with waddle – dislocated hips?• Abnormal heart sounds• Referred to respiratory again - ?pulmonary hypertension• Did have pulmonary hypertension – very serious• Did have dislocated hips – not so serious, but parents angry• Role of community paed (and GP) to pull it all together

Ex-prem - School

• Walking short distances – wheelchair for longer distances• Clever• Selectively mute• Some features of autism spectrum disorder – rigid behaviour, sensory

issues• Concentration OK so far• Maths skills OK so far• Prognosis re heart and lungs guarded

Ex-prem – Case History 2

• Boy, born at 25/40• Stormy neonatal course – NEC (necrotising enterocolitis)• Now has short gut – 10 dirty nappies per day• Gastrostomy-fed plus some oral food• Behind in milestones• Poor concentration• Speech unclear• Squint

Ex-prem 2 – Poor Attendance

• Parents have mental health problems – miss health appoints• Sent taxis, grouped appointments together• Various meetings with social work• Volunteer to take to appointments• Missed hip xrays• Missed audiology clinic several times• Missed eye clinic several times• Put onto child protection register

Ex-prem 2 - School

• Locomotor skills good but falls a lot – poor concentration, fast• Still not faecally continent – ever?• Attending special school – physical disabilities• Ongoing social work input• (ADHD?)

Ex-prem - Problems

• Cerebral palsy• Autism spectrum Disorder• ADHD• Language problems• Poor concentration• Lower IQ, especially with maths• Cerebral Vision Impairment• Hearing Impairment