Intellectual Disability Flashcards
Intellectual Disability
Significant impairment of intellectual and social development during the normal developmental phase
Significant impairment of intelligence
Significant impairment of social functioning
Impairment of intelligence
Mild 69-50 9-12 yo
Moderate 49-35 6-9 yo
Severe 34-20 3-6 yo
Profound <20 <3 yo
Diagnostic screening questions
Impaired cognitive functioning
- Autobiographical details
- Time - clock face vs digital
- cohérent histrory of what has happened to them
Diagnostic screening questions
Impaired social functioning
Can they work or perform job-related tasks?
Can they cook and manage household tasks?
Can they use public transport independently?
Diagnostic screening questions
Started in childhood
Was the person ever told they had a learning disability
Did they have a statement of educational needs? Extra help in the classroom
Challenging behaviour
Challenge to others/services rather than a manifestation of a psychopathological process.
Culturally abnormal behaviour of such an intensity, frequency or duration that physical safety is likely to be placed in serious jeopardy, or limit use/deny access to ordinary community facilities
Threatens QoL +/- safety of individuals or others, likely to lead to responses that are restrictive or aversive
Behavioural issues in LD
Physical Mental illness Neuropsychiatric disorders -epilepsy, Tourette's, ADHD, dementia Pervasive developmental disorders
Phenotype-related disorder
Psychological
Communication difficulties
Sensory disability
Environmental - staff, training, consistency, relationships, social participation, patient needs
Autism screening in LD
ADOS-G
ADI-R
X-linked recessive
Lesch Nyhan
X-chromosome mutation in HPRT gene. Male. High uric acid, goût, renal. Dystonia, chorea, ballismus. Self-injury - severe, self-mutilating Microcephaly
Angleman
Deletion, maternal 15q12
Severe/profound LD
Happy, hand flapping, paroxysmal laughter, hand flapping, clapping, ataxia.
Epilepsy = 90%
66% fair hair, blue eyes; microcephaly; flattened occiput, long face, prominent jaw, wide space teeth, thin upper lip, pointed chin
X-linked recessive
Hunter’s syndrome
Increased glycosaminoglycans
Noticeable after 1 yo
Coarse face, flat nasal bridge Flared nostrils Ataxia, hearing loss, hernia Hepatosplenomegaly Growth retardation, joint stiffness CVS abnormalities
Loss of speech ages 8-10, delayed speech
Hyperactive, inattentive, restless
X linked dominant - most common inherited
Fragile X
FMR1
Boys = mod/severe LD
Girls = mild LD
Physical; long face, large head/ears, macroorchidism; lax joints, MV prolapse, epilepsy 20-25%
Shy, gaze avoidance, social anxiety, communication difficulties
50% ASD criteria
CGG triplets on long arm; >200
X-linked dominant
Rett syndrome
MECP2 Females Onset 7-24 months Normal development then loss of fine motor hand skills, language Hand wringing, hyperventilation
90% epilepsy
Autosomal dominant
Tuberous sclerosis
Learning disability, all degree (30% none)
Seizures
Ash leaf spot, depigmentation
Hamartoma CNS
ASD, hyperactivity, impulsivity, self-injury
Neurofibromatosis type 1
Chr 17; NF1 tumour CNS
Cafe-au-lait
Freckling, axillary
Optic glioma
Lisch nodule, iris harmartoma
50% speech and language
10% mod-profound ID, verbal IQ>performance IQ
Autosomal recessive
PKU - severe LD, language delay
25% seizures
Microcephaly
Self-injury
Musty odour, hypopigmentation
Hurler syndrome
Death <10
Increased glycosaminoglycans
Hepatosplenomegaly, hirturism, corneal clouding, coarse facial features
Decline in IQ and physical skills
San filipo
Severe LD
Dwarfism, claw hand, hypertrichosis, hearing loss, joint stiffness, hepatosplenomegaly
Laurence-moon-biedl
Polydactly, retinitis pigmentosa, night blindness, spastic paraplegis, NIDDM, renal
Mild-moderate LD
Behavioural phenotype: self-harm
Lesch Nyhan: compulsively severe self-mutilating. Appears age 2-3.
Smith-Magenis: hyperactive, impulsive, stereotypies (self-hugging), self-harm - head banging, nail pulling, objects into orifices
Prader Willi: skin picking, compulsive self-harm
Cornelia de Lange: habitual self-harm
Prevalance rates of psychiatric disorders in LD
Schizophrenia 3% BPAD 1.5% Depression 4% Agoraphobia 1.5% OCD 2.5% Autism 7% Challenging behaviour 10-15%
Autism and LD
Mild - 10% may have ASD
Severe - up to 40% ASD
75-80% of children with autism also have a LD
Psychotropic meds in LD
Antipsychotic - psychosis, behaviour
Antidepressant- depression, anxiety, ocd, self-injury
AED; epilepsy, rapid cycling, episodic dyscontrol
Lithium
Need EEG first, FBC and renal as can cause seizures. Bipolar, aggressive behaviour/self-harm
Stimulant - ADHD
Naltrexone - self injury
Anti-libidinal drugs (cyproterone acetate, medroxyprogesterone) sexual offending and problematic behaviour
XXX
60-70% mild LD
Delayed language, motor coordination problem, accelerated growth until puberty, premature ovarian failure
Anxiety, ?schizophrenia
45XXY, Klinefelters
Primary feature sterility Gynaecomastia, sparse body hair, hypogonadism Tall, thin Most IQ in 60-70, although average 90 Intorvert, less assertive, less social
Aetiology of ID
Genetic = 5% Acquired medical condition = 5% Pregnancy = 10% Environnement = 15-20% Unknown = 30-40%
