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LD Flashcards

1
Q

What is the IQ range for moderate intellectual disability?

A

35-49

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2
Q

What is the IQ range for severe intellectual disability?

A

20-34

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3
Q

hat is the IQ range for profound intellectual disability?

A

<20

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4
Q

What is the IQ range for mild intellectual disability?

A

50-69

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5
Q

What % of children with autism have associated intellectual disability?

A

70-75%

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6
Q

What’s the normal IQ?

A

> 90

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7
Q

What’s the estimated prevalence of Schizophrenia in people with LD?

A

3%

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8
Q

When can Schizophrenia not be reliably diagnosed in LD?

A

IQ <45

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9
Q

What’s the most common inherited cause of LD?

A

Fragile X

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10
Q

What % of children with LD are accounted for by Down’s?

A

30%

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11
Q

What is the IQ of people with Down’s?

A

40-45

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12
Q

What proportion of people with Down’s aged 60-69 will develop Alzheimer’s?

A

60%

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13
Q

What % of children with autism are daignosed with severe or profound LD?

A

50%

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14
Q

Incidence of foetal alcohol syndrome?

A

1.9 per 1000

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15
Q

What supports a subcultural rather than neuropathological explanation for LD?

A

Mild learning disability
Intellectual ability is impaired in family members
Often seen in social class V

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16
Q

Features of Foetal Alcohol syndrome?

A 
Microcephaly
Short stature
Mid face hypoplasia
Short palpebral fissure
Mild to moderate LD
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17
Q

Features of PKU?

A 
Fair skin
Blue eyes
Blond hair
Mouse like body odour
Profound LD
Microcephaly
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18
Q

Features of Hurlers syndrome?

A 
Short stature
Hirsutism
Corneal clouding
Hepatosplenomegaly
Severe LD
Death before age 10
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19
Q

Features of Hunters syndrome?

A 
Flat nasal bridge
Hearing deficits
Ataxia
Recurrent infections
LD
Enlarged liver and spleen
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20
Q

Highest incidence of LD is seen in?

A

School age children

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21
Q

Prevalence of LD

A

1-3%

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22
Q

What’s the most common cause of LD?

A

Down’s (this is sporadic NOT inherited)

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23
Q

Additional features of PTSD in people with LD

A

Disruptive/defiant behavior

Self-harm

Agitation/jumpiness

Distractibility

Sleep problems

Depressed mood

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24
Q

Common conditions with Microcephaly as a feature

A

Fetal alcohol syndrome

Down’s syndrome

Edward’s syndrome

Patau syndrome

Angelman syndrome

De Lange syndrome

Prader-Willi syndrome

Cri-du-chat syndrome

  • Rubinstein syndrome
  • Wolf-Hirschhorn syndrome
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25
Q

Prevalence of Fragile X

A

Fragile X occurs in approximately 1 in every 3600 males and 1 in 4000-6000 females.

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26
Q

In what proportion of people with a learning disability is it not possible to identify a cause?

A

60%

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27
Q

What is the Flynn Effect?

A

observed rise over time in standardised intelligence test scores.

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28
Q

Tests used to diagnose Alzheimer’s in Down’s

A

DMR (Dementia Questionnaire for Persons with Mental Retardation)

DSDS (Dementia Scale for Down Syndrome)

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29
Q

Makaton is a form of sign language developed specifically for deaf people with which condition?

A

LD

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30
Q

Mild intellectual disability proportion of total LD

A

85%

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31
Q

profound intellectual disability proportion of total LD

A

1-2%

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32
Q

moderate intellectual disability proportion of total LD

A

10%

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33
Q

Which medication is most likely to lead to a swallowing problem in someone with a learning disability?

A

Clonazepam

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34
Q

What is the estimated prevalence of affective disorder in adults with learning disabilities?

A

6%

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35
Q

What is an impairment?

A

any loss or abnormality of psychological, physiological, or anatomical structure or function.

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36
Q

What is a disability?

A

is any restriction or lack (resulting from impairment) of ability to perform an activity in the manner or within the range considered normal for a human being.

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37
Q

What is a handicap?

A

disadvantage for an individual, resulting from an impairment or a disability, that limits or prevents the fulfilment of a role that is normal according to age, sex and social and cultural factors for that individual.

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38
Q

Risk of Down’s with increase in maternal age

A

Maternal age of 35 years, the risk is 1 in 385

Maternal age of 40 years, the risk is 1 in 106

Maternal age of 45 years, the risk is 1 in 30

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39
Q

% of Down caused by Full trisomy 21?

A

95%

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40
Q

Which syndrome results in a mutation of the HPRT1 gene?

A

Lesch-Nyan syndrome

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41
Q

Inheritance pattern for Lesch-Nyan Syndrome?

A

The condition is inherited in an X-linked recessive pattern.

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42
Q

closest estimate of the prevalence of schizophrenia in adults with a learning disability?

A

3%

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43
Q

What is the average full scale IQ in Turner syndrome?

A

90

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44
Q

Which medications associated with paradoxical reactions in people with learning difficulties?

A

Benzos
Paradoxical reaction = unexpected increases in aggressive behaviour, sexual disinhibition, hyperactivity, vivid dreams, and hostility

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45
Q

Prevalence rates for psychotic disorder in people with learning disabilities are approximately how many times greater than for the general population?

A

3x

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46
Q

Risk factors for self injury

A

Younger age

Lower developmental ability

Autistic symptoms

Sensory impairment

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47
Q

What percentage of Japanese children are estimated to have a reading ability delayed by one year?

A

16%

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48
Q

Whats the most common presenting feature of post-traumatic stress disorder in the learning disability population?

A

Aggression

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49
Q

Cluttered speech is a feature of which syndrome?

A

Fragile X

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50
Q

Which medication is recommended by NICE as first-line for the treatment of newly diagnosed generalised tonic-clonic epilepsy in patients with learning disabilities?

A

Sodium valproate

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51
Q

Which syndrome is associated with hypoxanthine phosphoribosyltransferase 1 deficiency?

A

Lesch-Nyan syndrome (build up of uric acid)

Self-injury, including biting and head banging, is the most common and distinctive behavioral problem

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52
Q

What % of people with Neurofibromatosis 1 present with moderate-severe LD?

A

50%

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53
Q

What does Neurofibromatosis present with: macro/microcephaly?

A

macrocephaly

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54
Q

What is the inheritance pattern of Neurofibromatosis?

A

Autosomal dominant with 50% sporadic cases

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55
Q

What are the features of Neurofibromatosis?

A
  • short stature
  • macrocephaly
  • optic nerve glioma
  • hypertension
  • tumours arising from connective tissue of nerve sheaths
  • cafe au lait spots
  • cutaneous nuerofibromas
  • freckling of groin/armpit
  • skeletal deformities
  • lisch nodules
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56
Q

What are some of the characteristics of Prader-Willi syndrome?

A
  • Deletion of the paternal 15q12
  • EXCESSIVE WEIGHT GAIN AND SKIN PICKING
  • hyperphagia
  • inverted v-shaped upper lip
  • hypogonadism
  • mild to moderate LD
  • orthopaedic problems
  • almond shaped eyes and flat face
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57
Q

Is spasticity a characteristic Prader Willi syndrome?

A

No

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58
Q

A single neuclotide polyphormism of dopamine receptor 3 (DRD3) - rs167771 is associated with which condition?

A

Autism

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59
Q

Which neuroanatomical area is associated with rs167771 SNP and explains the symptoms of Autism?

A

Striatum

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60
Q

What’s the most commonly associated comorbidity with Prader-Willi?

A

OCD

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61
Q

What are the features of Rett syndrome?

A
  • X-linked dominant fashion
  • seen in girls
  • small hands and feet
  • seizures (epilepsy in 90%)
  • spasticity
  • truncal ataxia and apraxia
  • Choreoathetoid (HAND WRINGING) movements
62
Q

What causes Rett syndrome?

A

Mutation in transcription gene MECP2 on chromosome Xq28

63
Q

What’s the prevalece of Rett sydrome?

A

1 in 15 000 to 1 in 22 000

64
Q

What’s the inheritance pattern of tuberous sclerosis?

A

Autsomal dominance

has 100% penetrance

65
Q

What are the clinical features of tuberous sclerosis?

A
  • skin depigmentation
  • intractable epilepsy (90% cases have epilepsy)
  • spleen tumours
  • tumours in the lungs and kidneys
  • autism (in 75% of cases)
  • hyperactivity, impulsivity
  • aggression
  • self-injurious behaviour
66
Q

What are the features of Cornelia de Lang syndrome?

A

related to lack of pregnancy-associated plasma protein A (PAPPA) linked to chromosome 9q33

  • SMALL HANDS AND FEET
  • SELF INJURIOUS BEHAVIOUR
  • microcephaly
  • short stature
  • severe to profound LD
  • stereotypic movements
  • compulsive behaviour
  • feeding diffculties
  • avoidance of being held
  • temper tantrums
  • mood disorders
  • continuous eyebrows
  • hypertrichosis
67
Q

What is Angelman syndrome?

A
  • maternal 15xq
  • also known as happy puppet syndrome
  • FLAPPING HAND MOVEMENTS
  • epilepsy in 90%
  • severe to profound learning disability
  • laughter, cheerful disposition (laughing at minimal provocation)
  • Attraction to water
  • ataxia
  • GI problems
68
Q

Which disorders are associated with 5HTT gene polymorphisms?

A
  • Autism
  • Increased fear and anxiety-related behaviours
  • OCD
  • suicidal behaviour in depressed patients
69
Q

Down’s syndrome overview

A
  • TRISOMY 21
  • SIMIAN CREASE WITH ALMOND SHAPED EYES
  • small round head with flat back of skull (microcephaly)
  • abundant neck skin (nuchal swelling)
  • oblique palpebral fissures
  • brushfield spots
  • prominent epicanthic fold
  • epilepsy (5-10%)
  • high cheekbones and a protruding tongue
  • High-arched palate
  • reduced muscle tone in infancy (hypotonia)
  • increased rates of congenital heart disease
70
Q

Cri du chat overview

A
  • CHROMOSOME 5 (microdeletion in short arm)
  • CAT LIKE CRY
  • broad flat nose
  • ROUND FACE WITH HYPERTELORISM
  • slanting palpebral fissures
  • severe to profound LD
  • microcephaly
  • low set ears
  • cardiac abnormalties
  • stereotypes
  • hyperactivity
  • self-injury
  • GI abnormalities
71
Q

Patau syndrome overview

A
  • TRISOMY 13
  • OVERLAPPING OF FINGERS OVER THUMB
  • microcephaly
  • cleft palate
  • kidney and heart defects
72
Q

Williams syndrome overview

A
  • 7q11 deletion
  • ELFIN LIKE FEAUTURES WITH SOCIAL DISINHIBITION
  • short stature
  • HYPERCALCAEMIA
  • mircocephaly
  • impulsive behaviour
  • hyperacusis
  • anxiety, phobias
  • pseudomature language
  • irrepressible and affectionate outlook

Williams syndrome is also known as ‘hypercalcemia with supra valvular aortic stenosis’

73
Q

Turner sydrome overview

A
  • XO (nondisjuntion of parternal XY chromosome)
  • SHORT STATURE, WEBBED NECK
  • low hairline
  • widely spaced nipples
  • madelung deformity of the wrist
74
Q

DiGeorge syndrome overview

A
  • VELOCARDIOFACIAL, CATCH 22
  • 22q11 (microdeletion)
  • CLEFT PALATE WITH CARDIAC PROBLEMS
  • abnormal facies
  • thymic hypoplasia
  • hypocalcaemia
  • microcephaly
  • LD is common
  • high rate of psychiatric problems - schizophrenia and BPAD
75
Q

Edward syndrome overview

A
  • TRISOMY 18
  • ROCKER BOTTOM FEET
  • strcutural heart abnormalities
  • kidney malformaions
  • oesophageal atresia
  • cleft palate
76
Q

Lesch-Nyhan Syndrome

A
  • X LINKED RECESSIVE (involving mutation on HPRTgene on Xq26-27)
  • COMPULSIVE SELF MUTILATION, DYSTONIA, WRITHING MOVEMENTS
  • dysphagia and dysarthria
  • orange uricosuric acid sand
77
Q

Klinefelter syndrome

A
  • XXY (sporadic occurence)
  • 1/1 000 males
  • newborns clinicaly normal
  • TALL WITH SMALL TESTICLES
  • gynaecomastia
  • testicular atrophy
  • infertility
  • median IQ is 90
78
Q

Wolf-Hirschhorn syndrome

A
  • CHROMOSOME 4 (partial deletion short arm)
  • DOWN-TURNED FISHLIKE MOUTH GREEK WARRIOR HELMET FACE
  • growth restriction
  • severe LD
  • seizures
  • hyperteolorism and protruding eyes
79
Q

Imprinting of the same region on a chromosome is associated with?

A

Prader-Willi and Angelman

80
Q

Fragile X overview

A
  • X LINKED DOMINANT INHERITANCE
  • LARGE EARS AND LONG FACE
  • moderate learning difficulties
  • cluttered speech: Jocular speech, up and downs of pitch (LITANIC speech), palilalia (repeating the last phrase over and over again)
  • macroorchidism
  • shy
  • social anxiety
  • poor eye contact
  • epilepsy (25%)
  • prone to losing temper quite easily
  • Associated with mitral valve prolapse

*Fragile X occurs in both genders but is more common in males than females - greater penetrance in males

81
Q

Which gene is implicated in Fragile X syndrome?

A
  • the FMR1 Gene is implicated

- there are abnormal trinucleotide CGG repeat at a fragile site on the X chromosome (Xq27.3)

82
Q

What is the process of x inactivation called?

A

Lyonisation

83
Q

Maple Syrup urine disease has which inheritance pattern?

A

Autosomal recessive

84
Q

47 XXX Syndrome

A

-Life expectancy of people with 47 XXX Syndrome is normal

85
Q

inheritace pattern of coffin lowry syndrome

A

X linked dominant

86
Q

Features of coffin lowry syndrome

A 
Soft hands with short, tapered fingers
short stature
microcephaly
kyphoscoliosis
other skeletal abnormalities
LD
87
Q

Specific ‘reading retardation’ is associated with

A

Conduct disorder
brain injury
family history of reading diffciculty
large families with overcrowding

88
Q

What is the prevalence of depression among individuals with intellectual disabilities?

A

2-4%

89
Q

‘Hypertelorism’ is a feature seen in which conditions?

A

DiGeorge syndrome

Noonan syndrome, Edwards syndrome, cridu-chat syndrome and neurofibromatosis.

90
Q

Smith Magenis syndrome overview

A

*complete or partial deletion of 17p11.2

  • flattened midface
  • abnormally shaped upper lip
  • short hands and feet
  • abnormally placed ears often with RECURRING OTITIS MEDIA
  • protruding tongue
  • high arched palate
  • moderate to severe LD
  • Shy, gaze avoidance and social anxiety
  • Stereotypies including self-hugging, severe self-injurious behaviours like head banging
91
Q

Which syndrome confers protection from mania while increasing the risk for dementia?

A

Down

92
Q

Who first described the term infantile Autism?

A

Kanner

93
Q

Brain changes in Fragile X syndrome

A
  • increased Hippocampal size may be increased

- decreased cerebellar vermis size

94
Q

What % of LD in boys does Fragile X account for?

A

10-12%

95
Q

Whcih conditions are associated with autism?

A
  • LD (50-60%)
  • Epilepsy (22%) - Generalised tonic-clonic type seizures
  • Tubberous Sclerosis
  • Congenital rubella syndrome
  • PKU
  • ADHD, OCD, anxiety, depression, tics
96
Q

Asperger’s syndrome is characterised by delays in

A

Nonverbal communication

*Asperger’s is characterised by impairments in social interaction, and restricted interests and behaviours seen in autism but normal language development

97
Q

Features of hands of patients with Down’s syndrome?

A
  • Altered dermatoglyphics
  • Incurving of fingers
  • Webbed fingers (syndactyly)
  • Short broad hands with a single palmar crease
98
Q

Prior to the introduction of DSM-5, a multiaxial system was used by DSM-IV . DSM-IV coded
“mental retardation” on which of the following axes?

A

Axis II (For personality disorders or mental retardation)

99
Q

Criteria for clinically significanct challenging behaviour

A
  1. At some time, the behaviour has caused more than minor injuries to themselves or others, or destroyed their immediate living or working environment.
  2. At least weekly the behaviours require intervention by staff; placed them in physical danger; caused damage that could not be rectified; caused at least 1hr of disruption.
  3. Behaviour has caused over a few minutes’ disruption at least daily.
100
Q

Which category of learning disability is more commonly associated with disruptive behaviours and misconduct?

A

Mild

101
Q

What drug may be effective in the treatment of repetitive self-injury?

A

Naltrexone

102
Q

Which drug is licensed for the control of aggressive behaviour or intentional self-harm in patients with a learning disability?

A

Lithium

103
Q

What is true about the relationship between the length of triplet repeats and the IQ in people with Fragile X?

A

Length of triplet repeats is inversely related to the IQ

104
Q

Which disorder is anxiety uncommon in?

A

Down’s

105
Q

Self-talk seems to be particularly common in children with

A

Down’s

106
Q

severe intellectual disability proportion of total LD

A

3-4%

107
Q

The prevalence of epilepsy among patients with a learning disability is about

A

20-25%

108
Q

Features of Lennox Gestaut syndrome

A
  • Frequent (daily) seizures of various types - most common is nocturnal tonic seizure (90%); followed by myoclonic seizures
  • LD and progressive reduction in IQ
  • non-convulsive status epilepticus characterised by dizziness, apathy and unresponsiveness is seen in ~50% - EEG shows spike-wave complexes
109
Q

Age of onset for Lennox Gestaut syndrome

A

It mostly appears between the second and sixth year of life

110
Q

What are the sleep pattern characteristics seen in Rett’s syndrome?

A

excessive daytime sleep, reduced nocturnal sleep and increased total sleep time

111
Q

What is the most common predisposing factor for developing learning disabilities?

A

Defects in embryogenesis

112
Q

Technique used to treat stuttering

A

Prolonged speech

113
Q

Risk of autism in 2nd child if first has autism

A

1-10%

114
Q

Postnatal factor that increases the risk of learning disability?

A

Head injury

115
Q

Prevalence of DiGeorge syndrome?

A

1 in 4500 people

116
Q

Autosomal recessive conditions

A

Sanfilippo diseas
Hurler’s syndrome
maple syrup urine disease
PKU

117
Q

X-linked recessive conditions

A

Lesch-Nyhan syndrome and Hunter’s syndrome

118
Q

In whic syndrome of learning disability is anxiety disorder most common?

A

Fragile X

119
Q

Prevalence of obesity in children with autism?

A

20%

120
Q

XYY syndrome

A

Supermale
Overrepresented in the prison population
Usually asymptomatic
Affected individuals tend to be taller than average.
There is an increased risk of learning difficulties. Aggression is not seen in higher levels than the normal population.

121
Q

Self-injurious behaviour occurs most frequently between the ages of

A

10-30 years

122
Q

What is Hunter’s Syndrome?

A

It is an X-linked recessive condition linked to iduronate sulfatase deficiency (locus X q28)

*Hunter’s syndrome is rare and is seen in around 1/100,000 live-births.

123
Q

Whcih psychiatric condition is increased in people with borderline IQ compared to general population?

A

Schizophrenia

124
Q

In adults with learning disabilities, dysphagia is a known side effect of which drug?

A

Clonazepam

Olanzapine

125
Q

The most common cause of death in Down syndrome is

A

Infections

126
Q

The Special Education Needs & Disability Act of 2001 (UK) requires schools to draw up accessibility strategies for children with intellectual disabilities. The aim of this programme is to facilitate

A

the inclusion of pupils with intellectual disabilities to mainstream schools

127
Q

A couple has a child with Down syndrome. Their risk of having another child with the same syndrome is highest if their first child has?

A

Translocation Down syndrome

128
Q

Autosomal dominant conditions

A

Nuerofibromatosis
Tuberous Sclerosis
William’s syndrome

129
Q

Which baseline investigation must be done before initiating therapy in a patient with LD?

A

EEG

130
Q

Which condition is commonly associated with atrioventricular defects in a child?

A

Down’s

131
Q

IQ scores for Borderline intellectual functioning

A

71-84

132
Q

Rubinstein Taybi syndrome

A
  • short stature
  • microcephaly
  • broad thumb and big toes
  • prominent nose, wide nasal bridge
  • hypertelorism
  • beaked nose
  • long eyelashes
  • expressive language difficulties
  • performance IQ greater than verbal IQ
  • friendly disposition
  • self-stimulatory activities such as rocking
  • intolerance of loud noises
133
Q

This therapy may be used to help teach basic skills like toileting

A

Behavioural treatments e.g. shaping/chaining

134
Q

This technique may be useful to deal with low self-esteem in mild LD

A

Cognitive therapy

135
Q

Management of episodic dyscontrol and epilepsy in LD

A

Carbamezapine

136
Q

Management of intractable sexual offending not responding to behavioural measures

A

Cyproterone acetate

137
Q

Management of inappropriate sexual behaviours.

A

Behavioural treatments e.g. shaping/chaining

138
Q

Laurence Moon Biedl syndrome

A 
central obesity
polydactyly
night blindness (due to red cone atrophy)
mild to moderate LD
short stature
spastic paraparesis
hypogenitalism, night blindness 
NIDDM
renal problems
139
Q

proportion of cases with learning disability caused by genetic inheritance

A

5%

140
Q

proportion of cases with learning disability caused by pregnancy and perinatal problems

A

10%

141
Q

proportion of cases with learning disability caused by acquired general medical problems

A

5%

142
Q

proportion of cases with learning disability caused by environmental influences

A

15-20%

143
Q

proportion of cases with learning disability with no definitive aetiology

A

30-40%

144
Q

The prevalence of ADHD among patients with a learning disability is about

A

15-20%

145
Q

The prevalence of self-injurious behaviour among patients with a learning disability is about

A

15-20%

146
Q

Homocystinuria overview

A
  • autosomal recessive
  • several common features with Marfan syndrome
  • tight joints
  • mildly delayed development or in some cases failure to thrive
  • visual problems that may lead to the diagnosis of this condition
  • dislocated lens of the eye
  • near sightedness
  • Chest deformities (pectus excavatum, pectus carinatum)
  • high arched feet
  • tall & thin build
  • long limbs
  • mild LD
147
Q

San Filippo disease overview

A

*disorder of the breakdown of heparan sulphate

  • severe LD
  • claw hand
  • dwarfism
  • hypertrichosis
  • hearing loss
  • hepatosplenomegaly
  • biconvex lumbar vertebrae
  • joint stiffness
148
Q

What year was the autism act passed?

A

2009

149
Q

Which speech or cognitive problems would NOT be usually observed in Fragile X syndrome?

A

Impaired syyntax

150
Q

Risk factors for autism

A 
Sex of child
Family history
Genetic disorder - Rett/Fragile X
Prematurity
Low birth weight
Viral infections during pregnancy

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