Level 2 - Developmental Delay and Emotional/Behaviour Problems COPY Flashcards
What is ASD?
- Lifelong disorder, present from early childhood which significantly limits or impairs activities of daily living
- Continuum of behavioural states
Epidemiology of ASD? When do they usually present?
- >1/200
- Males > Females
- Usually presents between 2-4 years old
Aetiology of ASD?
o Idiopathic
o Genetic
o Family history
o Associated epilepsy in 30 %
Associated conditions with ASD?
o Anxiety
o ADHD
o Challenging behaviour
o Learning difficulties
What is Asperger’s syndrome?
o Child with social impairment of an autistic spectrum disorder but at milder end
What core symptoms of social communication are present in ASD?
Does not seek comfort, form close friendships, prefers own company, no interest in playing with others
Gaze avoidance, socially and emotionally inappropriate
Does not appreciate that others have thoughts and feelings
Delayed language development - delay babbling, less words, regression of speech, refers to self as you/he/she
Formal pedantic language, monotonous voice
Repeats instructions
What core symptoms of restricted, repetitive patterns of behaviour are present in ASD?
Stereotyped or repetitive movements, use of objects or speech
Inflexible adherence to daily routines or ritualised patterns of behaviour
Highly restricted, fixed interests that are abnormal in intensity or focus, such as strong attachment to, or preoccupation with unusual objects
Fascination with sensory aspects of the environment or over/under reactivity to sensations
What functional problems are seen in ASD?
o Sleeping problems
o Feeding problems
o GI disturbances
DDx of ASD?
- Specific language delay
- Global developmental delay
- Stereotypic movement disorder
- ADHD
- Mood disorder
- Anxiety disorder
- Attachment disorder
- Conduct Disorder
Investigations in ASD?
- Autism diagnosed by assessment including detailed history, collateral from school
- Referral to autism team
Parental advice in management of ASD?
- Parent training
o Increase knowledge of ASD
o Enhances parent-child interaction
o Benefits entitled
o Sleep hygiene
Behavioural and drug management of ASD? 3 drugs
- Early Intensive behavioural intervention
o Speech therapy, special schooling starting at 3
o National Autism society
- Drugs
Risperidone (aggression)
Melatonin (sleep)
SSRIs (repetitive behaviour)
Complications of ASD during childhood?
o Impaired social situations
o Challenging behaviours
o Increase vulnerability to mental health problems
o High stress to parents
Complications of ASD during adulthood?
o Unemployment
o Poor general health
o Social isolation
How much of visual impairment is genetic?
- 50% of visual impairment is genetic
When is child registered blind?
- A child is registered blind when best corrected vision is < 3/60
When is a child partially sighted?
- Partial sight= visual acuity >3/60 but <6/60
How common is severe visual impairment?
Severe visual impairment = 1/1000
Inherited aetiologies of blindness?
i) Trisomy 21
ii) CHARGE association
Congenital aetiologies of blindness?
i) Cataract
ii) Albinism
iii) Retinal dystrophy
iv) Retinoblastoma
v) Congenital infection e.g. CMV, rubella
Perinatal aetiologies of blindness?
i) Retinopathy of prematurity
ii) Hypoxic ischaemic encephalopathy
iii) Cerebral damage
iv) Optic n. hypoplasia
Postnatal aetiologies of blindness?
i) Trauma
ii) Infection e.g. ophthalmic herpes simplex
iii) Juvenile idiopathic arthritis: iritis
iv) Vitamin A deficiency
What symptoms do you get in cataracts and retinoblastoma?
- Cataracts, retinoblastoma lose red light reflex
What is CHARGE association?
o Coloboma (hole in part of eye) of the eye, heart defects, atresia of the nasal choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness
Symptoms of vitamin A deficiency?
o Xerophthalmia, progress from night blindness to corneal ulceration and scarring
o Increased susceptibility to infection
Investigations in blindness?
- Vision Assessment
o CNII, III, VI - Fundoscopy - Eye test
Management of blindness?
- Vitamin A supplementation
- Treat underlying cause
Types of deafness?
- Congenital or acquired and sensorineural or conductive
When would deafness affect development?
- Hearing loss of up to 20dB- does not affect development, loss of over >40dB will affect speech and language
What is sensorineural deafness?
Caused by lesion in cochlea or auditory nerve and usually present at birth
What is conductive deafness?
From abnormalities of ear canal or middle ear (effusion with otitis media)
How common is hearing loss?
- 1 in 500 new-borns have bilateral sensorineural hearing loss >40dB
- Conductive hearing loss more common
Genetic causes of sensorineural hearing loss?
o Non-syndromic
o Syndromic
Waardenburg syndrome (heterochromia)
Alport syndrome (kidney malformations)
Usher’s syndrome (retinitis pigmentosa)
Pendred syndrome (goitre)
Acquired causes of sensorineural hearing loss?
o Antenatal/Perinatal
TORCH infections
Hyperbilirubinaemia
HIE
o Post-natal
Drugs (Aminoglycosides, frusemide)
Meningitis/Encephalitis
Head injury
Acoustic neuroma
Causes of conductive hearing loss?
- Otitis media with effusion (glue ear)
- Wax
- Congenital abnormalities
o Pierre Robin
o Treacher-Collins
o Cleft Palate
Symptoms of sensorineural hearing loss?
o Usually present at birth
o Irreversible and can be profound
Symptoms of conductive hearing loss?
o Associated URTI
o Episodes of hearing loss which resolve
o May last months/years
Investigations in hearing loss? What does it test?
- Universal new-born hearing screening:
o Otoacoustic emissions
Microphone placed in external meatus detect cochlear sounds produced by outer hair cells
Detects function of peripheral auditory system important in SNHL
o Audiological brainstem responses
Ears covered with headphones and clicks emitted
Electrodes measure brain wave activity
SNHL
Assessment of hearing loss?
- Cranial nerve 8 test o Rinne’s Test
o Weber’s Test
- Audiology
o Impedance audiometry test (conductive)
Measure air pressure within middle ear and compliance of tympanic membrane
General measures in hearing loss?
o Provide support to develop signed or spoken communication
Makaton simplified signing
o Child sit in front of class
Management of sensorineural hearing loss?
o Hearing aids
o Bone anchored hearing aid
o Cochlear implants
Profound sensorineural deafness who do not benefit from hearing aid
Electrode inserted surgically into cochlea that stimulates auditory nerve
Management of conductive hearing loss?
o Medical
Abx, decongestants
o Surgery
Tympanostomy tubes (Grommets) with or without adenoid removal
o Hearing Aids
Definition of developmental delay?
Slow acquisition of all skills (global delay) or of one particular field (specific delay)
Definition of developmental learning difficulty?
Used in relation to children of school age and may be cognitive, physical or both
Patterns of developmental delay?
o Slow but steady
o Plateau effect
o Regression
When does global developmental delay present?
- Global developmental delay presents usually in first 2 years of life
Prenatal causes of developmental delay?
- DS, FXS, mitochondrial disorders
- Cerebral dysgenesis
- Neurofibromatosis, TSC
- TORCH infections
- Occlusions, haemorrhage
- Hypothyroidism, phenylketonuria
- Alcohol and drug abuse
Perinatal causes of developmental delay?
HIE
Extreme prematurity
Hypoglycaemia, hyperbilirubinaemia
Postnatal causes of developmental delay?
- Meningitis, encephalitis
- Suffocation, seizures
- Head injury
- Stroke
- Cerebral palsy
Symptoms of developmental delay?
- Defects in 4 domains of development
- Poor schooling, feeding, behaviour
Conditions with delays in motor development?
o Cerebral palsy
Conditions with delays in speech and language development?
o Hearing loss
o Cerebral palsy
o Cleft palate
o Environmental deprivation
o Include delay in language comprehension, expression Stammering, dysarthria, dyspraxia, pragmatics
Conditions with delays in social skill development?
o ASD
Investigations possible in developmental delay? (7)
- Cytogenetic
- Metabolic
- Infection
- Imaging
- Neurophysiology
- Hearing and vision tests
- Cognitive assessments
What cytogenetic tests can be done in developmental delay?
o Chromosome karyotyping, DNA FISH, Fragile X screen
What metabolic tests can be done in developmental delay?
o TFTs, LFTs, bone profile, U&Es, plasma amino acids
o CK, lactate, VLCFA, white cell enzymes, organic acids, urine mucopolysaccharides, lead, urate, ferritin
o Maternal amino acids
What infective tests can be done in developmental delay?
o Congenital infection screen
What imaging tests can be done in developmental delay?
o Cranial USS
o CT/MRI
o Skeletal survey
What neurphysiology tests can be done in developmental delay?
o EEG, nerve conduction studies
Management of developmental delay?
- Treat underlying cause
- Supportive help to function to best of their ability
- Relative therapy to improve skills – SALT, physio, carers, etc
