Development and learning disability Flashcards
What are the four areas of development?
Gross motor
Vision and fine motor
Hearing, speech and language
Social, emotional and behavioural
What are the gross motor limit age milestones?
Head control - 4 months
Sits unsupported - 9 months
Stands independently - 12 months
Walks independently - 18 months
At what age do babies usually start to cruise?
10-12 months
When would a baby usually start to walk steadily?
15 months
What are the limit ages for fine motor and vision?
Fixes and follows visually - 3 months
Reaches for objects - 6 months
Transfers object - 9 months
Pincer grip - 12 months
At what age do babies usually get a mature pincer grip?
10 months
At what age do babies usually start drawing line, square circles and triangles?
Lines = 2 years Circle = 3 years Square = 4 years triangle = 5 years
At what age should a child be able to build a tower of 6 blocks? a bridge?
6 bricks = 2 years
Bridge = 3 years
What are the limit ages for speech, language and hearing?
Polysyllabic babbles = 7 months Consonant babble = 10 months Says 6 words with meaning = 18 months Joins words = 2 years 3 word sentences = 2.5 years
At what age do babies normally start saying mama and dada with meaning?
10 months
At what age do babies normally start cooing and laughing?
4 months
What are the limit ages for emotional, behavioural and social?
Smiles = 8 weeks fear of strangers = 10 months Feeds self with spoon = 18 months Symbolic play = 2-2.5 years Interactive play = 3-3.5 years
At what age do babies normally start waving bye?
10-12 months
At what age can babies normally drink from a cup?
12 months
What is the asymmetrical tonic neck reflex?
Lying supine, the baby will reach out with a hand on the side the head is turned to
What is the most common cytogenic cause for down’s syndrome?
Non-disjunction (94%) - incidence proportional to maternal age
Chance of recurrence = 1 in 200 for mothers <35 years
Why should the parents of a child with robertsonian translocation of trisomy 21 be offered chromosomal analysis?
There is a higher risk of recurrence
25% will have a parent who is a carrier - i.e. has a balanced translocation - 15% risk of recurrence if mother is carrier, 2.5% if father is carrier
If a parent has a rare 21:21 translocation then the risk is 100%
For those who do not have a carrier translocation the chance of recurrence is <1%
Facial appearance of trisomy 21? Other external abnormalities?
Facial: Up-slanting palpebral fissures and epicanthic folds Small mouth and protruding tongue Blushfield spots Flat occiput Short, flat nose
Other:
Single palmar crease and incurved fifth finger
Large sandal gap
Small stature and hypotonia
Internal abnormalities in Down’s syndrome?
Cardiac defects - 40% - atrioventricular septal canal defect (endocardial cushion), VSD, ASG, PDA, tetralogy of fallot
Intelectual impairment
GI disease (30%) - Crohn’s, Hirshsprung’s, duodenal atresia
Secretory OM
Long-term complications for down’s syndrome?
Alzheimers and epilepsy Increased risk of leukemia and solid tumours Hearing and visual impairment Coeliac's and hypothyroidism Sub-fertility
What is included in the MDT approach to managing trisomy 21?
Rotuine development, cardiac, thyroid, opthamology (if squint) and audiological check-ups
Use of down syndrome growth chart
Genetic counselling
Social care/support for family
Prognosis of Down’s syndrome?
85% live >1 year (atrioventricular septal canal defect is big cause of mortality)
>50% live >50 years
At what age can you refer to ophthalmology for a squint?
3 months - can have transient misalignments up until this age
What is the most common type of squint?
Non-paralytic (within this type convergent is the most common)
Usually due to a refractive error of the cornea or lens
What is strabismic amblyopia?
Brain neglects image sent by weaker eye - can lead to decreased ocular development and blindness
How would an oculomotor paralytic squint present?
Ptosis and Proptosis
Pupil will look down and out
How would an abducens and trochlear paralytic squints present?
Diplopia,
Abducens - eye cannot look laterally
Trochlear - eye is fixed upwards
Investigations into squints?
Corneal reflex test - should be even reflection in both eyes - if not = refractive error
cover test - performed by experienced persons - object held at 33cm and 6m - ‘lazy’ eye should align when normal eye is covered
CT/MRI of head for suspected pathology i.e. space occupying lesion or encephalitis
When does autism usually present?
2-4 yrs
What are the three areas autistic spectrum children struggle with?
Speech and language - delayed development, limited use of gestures, monotonous voice, impaired comprehension (over literal interpretation)
Social interaction - prefer to be alone, do not seek comfort, gaze avoidance, lack of empathy, socially inappropriate behaviour, use repetitive phrases
Ritualistic/routine behaviour - on self and others (throw tantrums if routine is unsettled), peculiar and intense interests, ‘poverty’ of imagination, concrete play
Management of autism?
Applied Behavioural Analysis (ABA) - 25-30 hours a week spent trying to improve social/language skills and play and to reduce ritualistic behaviour
Can send t special school but encourage inclusion into a mainstream school
Emotional and social support for parents - can blame themselves
What is the study linked to MMR vaccine?
A very small study (12 people) that falsely linked autism to the MMR vaccine. Rejected by the scientific community - subsequent larger studies have disproven this link, in fact found no association
What co-morbidities might an autistic child have?
2/3 have a learning disorder/attention problems
1/4 have a seizure disorder
What is the usual cause of blindness in developed countries?
Genetic - cataract, albinism, retinal dystrophy, retinoblastoma
What are the antenatal and perinatal causes of visual impairment?
Congenital infection - CMV, rubella, gonorrhoea, chlamydia
Hypoxic-ischaemic encephalopathy
Prematurity - retinopathy
Optic nerve hypoplasia
Neoplasms - retinoblastoma, space occupying lesion
Signs of blindness?
Xeropthalmia (dry conjunctiva.cornea - vit a deficiency)
Absent red reflex
Pupils - may be unresponsive and of different sizes
Management of blindness
Education - braille and special school Enviromental support - ensure safe home, white cane Social support Psych - more prone to depression Cosmetic - glass eye
Usual causes of sensorineural and conductive hearing loss?
Sensorineural = genetic (50%) Conductive = glue ear
Investigations into deafness?
Audiometry - performed i first 4/5 weeks of life
CT/MRI of head
Management fo deafness?
Cochlear implant - microphone sends messages directly to the auditory nerve (bypasses ear) - provides representation of sound
What are the symptom of pre-mutation fragile X?
Should be no symptoms (CGC repeat - 55-199)
Symptoms of full mutation fragile X?
Moderate to severe learning difficulties
Autism
Anxiety
Hyperactivity
Signs - macrocephaly with long face, prominent ear and jaw, broad forehead
may develop scoliosis or suffer from mitral valve prolapse
Prognosis = good, no shortened life expectancy
