Community Flashcards
What is autism?
A spectrum of conditions which affect social and communication skills
What are the risk factors for autism?
Male sex (one of the most significant risk factors)
Family history/other siblings affected
Fragile X syndrome
What are the core features of autism?
Social skills- poor eye contact, difficulty empathizing, social cues missed, lack of imaginative play
Language- speech delay, literal interpretation of play, echolalia, restricted gestures and facial expressions
Repetitive behaviour- hand flapping, tiptoe gait, unusual interests, strict routine adherence
What is aspergers?
It is a variant and is on the lesser end of the Autism spectrum.
People with autism language and IQ is usually normal.
What investigations would you do for children with autism/what would you ask in the history?
. Ask about their development- speech delay, social impairment.
. Milestones- when was their first smile?have they ever played with other children?
With autism, development is usually normal for the first year, after this there may be a delay
. Ask about family history
. Any regression if skills (this is unusual)
In terms of investigations, you may want to do:
Hearing tests (children with hearing impairement often have behavioural issues due to this)
Genetic tests for tuberous sclerosis and fragile X
Exclusion of metabolic syndromes- PKU, excluded with heel prick test
Diagnoses is made by observation of the child against set criteria, once other causes have been excluded
What is the differential diagnosis for aspergers?
Fragile X Tuberous sclerosis Hearing impairement PKU Global developmental delay
How do you manage autism?
Biological
Holistic approach
Community paediatrician
Antipsychotics for aggression especially if child injures themselves
Melatonin can be used for severe sleep dysregulation
Psychological
Support groups and counselling encouraged for the family
Psychological co morbidities are common and should be managed by experienced professionals
Social
Applied behavioural analysis is useful for working on reducing repetitive behaviours and teaching social skills .
Educational support at school
Speech and occupational therapist input
What co morbidities often occur alongside autism?
. 1 in 4 develop seizures
. 3 in 4 have a moderate- severe learning difficulty
. A significant number have attention issues with hyperactivity
What is ADHD?
Presence of all three of the following: hyperactivity, impulsiveness, inattention beyond what is appropriate for the childs age.
What are the risk factors for ADHD?
Male sex
Family history of ADHD/learning difficulties/substance misuse
What are the clinical features of ADhD?
Impulsivity
Hyperactivity
Inattention
How do you diagnose ADHD?
The symptoms of hyperactivity, impulsivity and inattention must persist for more than 6 months, in more than one setting and impair the childs social functioning.
How do you examine ADHD
Is there a global developmental delay or learning difficulty
Visual acuity/ hearing tested
Observation of the parent child relationship
What are the differentials for ADHD?
Normal child Developmental delay Learning difficulty Psychological distress- bullying, abuse Oppositional defiance disorder Fragile X
How do you manage ADHD?
Management with an MDT
Starts with behaviour management- positive reinforcement
Parental training and education improves outcomes
What is the treatment for ADHD in terms of medical?
Methylphenidate
This is a CNS stimulant which blocks both the dopamine and noradrenaline transporters the synaptic membrane
This inhibits the reuptake of dopamine and noradrenaline
Net increases in dopamine and noradrenaline in neuronal synapses
Imcreased neurotransmission of these substances
What are the side effects of methylphenidate?
Anxiety Tremors Hypertension Insomnia Anorexia Hyperhidrosis Blood pressure should be checked annually and treatment caesed if hypertension develops.
What is down syndrome?
Also known as trisomy 21, the most common disorder of chromosome number (aneuploidy- abnormal number of chromosomes)
What is the pathophysiology of down syndrome?
. Non disjunction
. Genetic mosaicism
. Translocations
How do you diagnose down syndrome?
Triple testing
Amnioscentesis
Chorion villus sampling
Genetic testing with a karyotype study usually confirm diagnosis.
What are the clinical features of down syndrome?
Face, endocrine, others, neuro, GI, cardio
Face- brachycephaly
Flat nasal bridge
Up slanting palpebral fissures
Macroglossia
Eneocrine: hypothyroidism
Other: single palmar crease, sandal gap between toes, increased infection risk, cataracts, hearing impairment.
Neuro- hypotonia, development delay and learning disability, early onset Alzheimers, high risk of mental health issues
GI- feeding difficulties, 10% have anatomical defect (duodenal atresia), imperforate anus, higher risk of coeliac and Hirschsprung disease
Cardiac- VSD and AVSD
What are the clinical features of Down syndrome in terms of haematology?
polycythaemia is common at birth, they have an increased risk of leukaemia (10-20 fold risk)
What is the management of down syndrome?
This differs depending on each childs specific needs.
Large proportion will have a congenital anomaly repair early in life,
Feeding issues are common secondary to hypotonia, babies may need NG feeding support
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What is the triple test that can be done for down syndrome?
Prenatal maternal test which looks at 3 markers…
. Alpha fetoprotein
. Human chorionic gonadotrophin
. Unconjugated oestradiol
High risk= decreased AFP, increased HCG, decreased UE
What is cerebral palsy?
Non progressive permanent impairment of motor/postural development which arises in the immature brain and is often associated with other abnormalities (communicative, sensory, behavioural, seizure).
