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Care of People with Learning Disabilities. Dr James K. Betteridge September 2011. Outline. Introduction – Definition and Prevalence Case Classification Assessment Management Examples Down’s Syndrome Fragile X. Key Messages…RCGP.

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Care of people with learning disabilities

Care of People with Learning Disabilities

Dr James K. Betteridge

September 2011


  • Introduction – Definition and Prevalence

  • Case

  • Classification

  • Assessment

  • Management

  • Examples

    • Down’s Syndrome

    • Fragile X

Key messages rcgp

  • In managing patients with learning disabilities, GPs should:

    • Be aware of likely associated conditions and know where to obtain specialist advice

    • Understand how psychiatric and physical illness may present atypically in patients with LD who have sensory, communication and cognitive difficulties

    • Use additional skills of diagnosis and examination in patients unable to describe symptoms


  • 2.5 x associated medical problems

  • 3 x number of repeat prescription drugs prescribed by primary care

  • Major economic burden on NHS, Social Services and social security system


  • WHO defines learning disabilities as: “a state of arrested or incomplete development of mind.”

  • It is a diagnosis but is not a physical or mental illness.

  • Three criteria are required before learning disabilities can be identified:

    • Intellectual impairment

    • Social or adaptive dysfunction (Poor Life Skills)

    • Early Onset – birth/ early childhood

  • Epidemiology – 1.5% of population

Assessing intellect
Assessing Intellect

Intelligent Quotient (IQ)

  • Standardized tests in different domains of intelligence

    • Median score is set at 100 with a standard deviation of 15

    • This means 68% of population should have an IQ between 85 and 115


  • Derivation “mens” Latin for Mind, “mensa” Latin for Table

  • A round-table society of minds

  • Need IQ above 98th percentile to join – i.e. IQ above 145.

Ld classification
LD Classification

  • Mild (IQ 50-70) – 80%

    • Not usually associated with abnormalities in appearance or behaviour

    • Language, sensory, motor abnormalities are mild or absent

    • Problems not apparent until school age

    • Difficulty coping with stress or more complex areas of social functioning e.g. parenting, financial management.

    • Usually live independently, engage in employment

Ld classification1
LD Classification

  • Moderate (IQ 35-49) 12%

    • Limited language

  • Severe (IQ 20-34) and Profound (>20) 8%

    • Very limited communication and self-care skills

    • Associated physical disabilities

      • Epilepsy 33%

      • Inability to walk 15%

      • Incontinence 10%

    • May use non-verbal communication e.g. pointing, signing (Makaton)


  • Mild LD

    • No specific cause

    • Bottom end of normal distribution curve

    • Considerable genetic contribution

      • Correlation between low parental and low childhood IQ due to social and educational deprivation.


  • More severe LD

    • Usually related to specific brain damage

      • Antenatal

        • Genetic, Infective, Hypoxic, Related to maternal disease

      • Perinatal

        • Prematurity, Birth hypoxia, Intracerebral bleed

      • Postnatal

        • Infection, Injury (?NAI), malnutrition, hormonal, metabolic, toxic, epileptic

Genetic causes of ld
Genetic Causes of LD

  • Chromosomal

    • Down’s (Trisomy 21)

    • Klinefelter’s (XXY), Turner’s (X0), Fragile X

  • Autosmal Dominant

    • Tuberose sclerosis, neurofibromatosis

  • Autosmal recessive

    • Usually associated with a specific metabolic condition e.g. Phenylketonuria

Down syndrome1
Down Syndrome

  • Commonest specific cause of LD

  • LD usually moderate or severe but mild in 15%

  • Chromosomal condition caused by the presence of all or part of an extra 21st Chromosome

  • Named after Dr John Langdon Down 1866

  • 1 in 733 births

  • More common in older parents due to increased mutagenic effects on reproductive organs

D s clinical features
D.S – Clinical Features

Learning disability

  • Language

    • (Language delay – difference between understanding and expressing speech)

    • Common to screen for hearing

  • Motor skills

    • Fine motor skills lag behind – can interfere with cognitive development

    • Gross motor skills vary – Walking age 2-4

      • May benefit from physiotherapy to enhance

Screening for ds
Screening for DS

  • Pregnant women in the UK are offered screening for Down Syndrome

  • Combined Test:

    • 85% detection rate, 5% False Positive

    • Ultrasound Scan (8-14/30 or first dating scan)

      • Nuchal translucency (fat pad behind neck)

    • Blood Test

      • Looks at Free Beta HCG and PAPPA (Pregnancy Associated Plasma Protein A

  • 2002 – Abortion rate of c. 92%

D s later life
D.S. – Later Life

  • Life expectancy 49 (2002)

  • People with DS surviving beyond the age of 50 invariably develop neuropathological changes akin to Alzheimer’s disease visible on post mortem

  • At least 50% have clinical dementia

Fragile x
Fragile X

  • Second most common cause of LD

  • 1 in 36000 male and 1 in 5000 female births

  • Accounts for 8% of males with LD

  • Caused by expansion of a single trinucleotide gene sequence (CGG)on the X chromosome

  • Results in failure to express the protein coded by the FMR1 gene, which is required for normal neural development

Fragile x physical features

Large Head

Large Ears

Connective Tissue Disorders

Low Muscle Tone

Flat Feet


High arched palate

Mitral Valve Prolapse

Fragile X – Physical Features

Fragile x psychiatric features
Fragile X – Psychiatric Features

  • Abnormal speech

  • Impulsivity and hyperactivity

  • Hand-biting, hand flapping

  • Poor eye contact

  • Unusual responses to sensory stimuli

  • 4% have autistic features

  • Women often have less severe behavioural problems and only 1/3 have significant LD

    • WHY? Think genetics…..

Ld and psychiatric illness
LD and Psychiatric Illness

  • Making diagnoses difficult due to coexisting language deficits

  • Behavioural disturbance common :

    • Self-injurious, aggressive, inappropriate sexual

  • Schizophrenia has prevalence of 3% in LD

    • Simple, repetitive hallucinations

  • Depression and anxiety disorders higher than general population

Management of ld 1
Management of LD (1)

  • Most people with LD live with their families

  • Support from primary care, educational and social services

  • MILD

    • Children - mainstream school with support

    • Adult – support to work in mainstream jobs

  • Small minority with Severe/Profound and usually behavioural problems require residential care

  • MDT approach to coordinate services – specialist psychiatric services

    • Mental illness, Physical illness, Finances, Housing

Management of LD (2)

  • Need for accessible information for patients

  • May face distress at realisation:

    • They many not achieve full independence

    • Their parents are likely to die before they do

    • Issues surrounding sexuality

  • Sensitive but frank communication at a level the patient can understand is important

  • REMEMBER – people with LD, especially those living in institutions are at increased risk of physical, emotional and sexual abuse.