What is the definition of a Learning Disability?
- A learning disability is a state of arrested or incomplete development of the mind
- It is characterised by impairment of skills manifested during the developmental period and skills that contribute to the overall level of intelligence
What is the triad that must exist to constitute a learning disability?
- Low intellectual performance below 70
- Onset at birth or during early childhood
- Wide range of functional impairment
What is the ICD-10 Criteria for the diagnosis of LD for Mild?
- Mild = IQ = 50-70
- Moderate = IQ = 35-49
- Severe = IQ = 20-34
- Profound = IQ <20
What is the ICD-10 Criteria for the diagnosis of LD for Mild?
- Mild = IQ = 50-70
- Moderate = IQ = 35-49
- Severe = IQ = 20-34
- Profound = IQ <20
What is the Pathophysiology of Learning Disability?
- Genetic: Down’s Syndrome, Fragile X syndrome, Tuberous sclerosis, Homocystinuria, Phenylketonuria
- Antenatal: Rubella, CMV, Intoxication (alcohol, cocaine, lead), endocrine disorders (hypothyroidism, hypoparathyroidism), physical damage (injury, radiation, hypoxia)
- Perinatal: Birth asphyxia, Intraventricular haemorrhage and neonatal sepsis
- Neonatal: Hypoglycaemia, meningitis, neonatal infections, kernicterus
- Postnatal: Meningitis, encephalitis, anoxia, metabolic (hypothyroidism, hypernatraemia) and cerebral palsy
- Environmental: Neglect/ Non-accidental injury, malnutrition and socioeconomically deprived
- Psychiatric: Autism, Rett’s Syndrome
What is the prevalence of Learning Disability?
- Mild = 85%
- Moderate = 10%
- Severe = 5%
What are the Clinical Features of Learning Disability?
- Motor Disabilities (Ataxia, Spasticity)
- Epilepsy
- Impaired hearing and vision
- Incontinence (faecal and urinary)
- Language is limited
What is the definition of Down’s Syndrome?
- A genetic disorder (trisomy 21) characterised by LD, dysmorphic facial features and multiple structural abnormalities
What are the physical features of Down’s Syndrome?
PROBLEMS:
Palpebral fissure (up slanting)
Round Face
Occipital + Nasal flattening
Brushfield spots (pigmented spots on iris)/Brachycephaly
Low-set small ears
Epicanthic folds
Mouth open + protruding tongues
Strabismus/ Sandal gap deformity/ single palmar crease
What are some of the medical problems for Down’s Syndrome?
- Heart defects (ventricular and septal defects, TOF)
- Hearing loss
- Visual disturbance (cataracts, strabismus, keratoconus)
- GI problems (oesophageal/ duodenal atresia, Hirschsprung’s, coeliac)
- Hypothyroidism
- Haematological malignancies (AML & ALL)
What is Fragile X syndrome?
- The second most common cause of LD
- A sex-linked disorder with developmental, physical and behavioural problems
What are the Physical Features associated with Fragile X syndrome?
- Large, Protruding ears, long face, high arched palate, flat feet, soft skin and lax joints
What are the Medical Problems associated with Fragile X syndrome?
- Mitral Valve Prolapse
What is Prader- Willi Syndrome?
- A deletion of part of chromosome 15
- Characterised by hypotonia, developmental delay as an infant, obesity, hypogonadism and behavioural problems (compulsive eating and disruptive behaviour)
What is Cri du chat?
- Caused by partial deletion of chromosome 5.
- Those affected have a high- pitched cry like a cat
- Low birth weight and feeding difficulties are also characterised
What investigations would you do before birth?
Before Birth:
- Amniocentesis, Chorionic villus sampling, genetic testing and karyotyping
- Down’s Syndrome:
1. Serum Screening B-hcg and pregnancy- associated plasma protein A + nuchal translucency (the sonographic appearance of a collection of fluid under the skin behind the fetal neck in the first trimester of pregnancy)
2. Quad test (B-hcg, a-fetoprotein, inhibin A, estriol)
After Birth:
- Bloods: FBC (infection), TFTs (hypothyroidism), Glucose (hypoglycaemia), serology( ToRCH infections)
- Brain Imaging: CT head and/ or MRI
- IQ test
What is the managment for Learning Disabilities?
- A MDT approach (psychiatrist, SALT, specialist nurses, psychologist, OP, social worker and even teacher)
- Behavioural techniques = applied behavioural analysis, positive behaviour support, CBT, psychiatrists, mental health nurses and psychologists
- Family Education = educational programmes and voluntary organisations
- Prevention = genetic counselling and antenatal diagnosis
What are the clinical features of a patient with a mild LD?
- Adequate language abilities
- Adequate Social skills
- Adequate self-care
- Most live independently - may need some support in housing and employment
- Have difficulties in academic work
What are the clinical features of a patient with a moderate LD?
- Able to communicate but language is limited
- May need supervision for self-care but can do simple work
What are the clinical features of a patient with severe LD?
- Marked degree of motor impairment
- Little to no speech
- can perform simple tasks under supervision
- Associated physical disorders
What are the clinical features of a patient with Profound LD?
- Severe motor impairment
- Severe difficulties in communication
- Little or no self-care
- Frequently have physical disorders and require residential care
What are common psychiatric co-morbidities in LD?
- Early- Onset Alzheimer’s disease
- Schizophrenia
- Anxiety
- Depressive disorders
- Autism
- Hyperkinetic Disorder
- Eating Disorders
- Personality Disorders
Why do people with learning disabilities have worse health than people without learning disabilities?
- Less likely to be able to verbalise concerns
- May not understand that there has been a change to their health
- May be unable to access healthcare correctly
- May not be brought to appointments
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Stroke13
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Reperfusion Therapy Of Stroke3
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Falls42
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Incontinence25
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Dementia39
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Alzheimer's Disease9
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Vascular Dementia8
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Lewy - Body Dementia6
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Frontotemporal Dementia6
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Delirium28
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Stroke 263
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Nutrition32
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Polypharmacy44
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Community Medicine7
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Older Persons Mental Health25
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Learning Disability23
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Care Home Medicine1
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Type 1 Diabtets7
