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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.