LD Flashcards
1
Q
What is the IQ range for moderate intellectual disability?
A
35-49
2
Q
What is the IQ range for severe intellectual disability?
A
20-34
3
Q
hat is the IQ range for profound intellectual disability?
A
<20
4
Q
What is the IQ range for mild intellectual disability?
A
50-69
5
Q
What % of children with autism have associated intellectual disability?
A
70-75%
6
Q
What’s the normal IQ?
A
> 90
7
Q
What’s the estimated prevalence of Schizophrenia in people with LD?
A
3%
8
Q
When can Schizophrenia not be reliably diagnosed in LD?
A
IQ <45
9
Q
What’s the most common inherited cause of LD?
A
Fragile X
10
Q
What % of children with LD are accounted for by Down’s?
A
30%
11
Q
What is the IQ of people with Down’s?
A
40-45
12
Q
What proportion of people with Down’s aged 60-69 will develop Alzheimer’s?
A
60%
13
Q
What % of children with autism are daignosed with severe or profound LD?
A
50%
14
Q
Incidence of foetal alcohol syndrome?
A
1.9 per 1000
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
16
Q
Features of Foetal Alcohol syndrome?
A
Microcephaly Short stature Mid face hypoplasia Short palpebral fissure Mild to moderate LD
17
Q
Features of PKU?
A
Fair skin Blue eyes Blond hair Mouse like body odour Profound LD Microcephaly
18
Q
Features of Hurlers syndrome?
A
Short stature Hirsutism Corneal clouding Hepatosplenomegaly Severe LD Death before age 10
19
Q
Features of Hunters syndrome?
A
Flat nasal bridge Hearing deficits Ataxia Recurrent infections LD Enlarged liver and spleen
20
Q
Highest incidence of LD is seen in?
A
School age children
21
Q
Prevalence of LD
A
1-3%
22
Q
What’s the most common cause of LD?
A
Down’s (this is sporadic NOT inherited)
23
Q
Additional features of PTSD in people with LD
A
Disruptive/defiant behavior
Self-harm
Agitation/jumpiness
Distractibility
Sleep problems
Depressed mood
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
25
Prevalence of Fragile X
Fragile X occurs in approximately 1 in every 3600 males and 1 in 4000-6000 females.
26
In what proportion of people with a learning disability is it not possible to identify a cause?
60%
27
What is the Flynn Effect?
observed rise over time in standardised intelligence test scores.
28
Tests used to diagnose Alzheimer's in Down's
DMR (Dementia Questionnaire for Persons with Mental Retardation)
DSDS (Dementia Scale for Down Syndrome)
29
Makaton is a form of sign language developed specifically for deaf people with which condition?
LD
30
Mild intellectual disability proportion of total LD
85%
31
profound intellectual disability proportion of total LD
1-2%
32
moderate intellectual disability proportion of total LD
10%
33
Which medication is most likely to lead to a swallowing problem in someone with a learning disability?
Clonazepam
34
What is the estimated prevalence of affective disorder in adults with learning disabilities?
6%
35
What is an impairment?
any loss or abnormality of psychological, physiological, or anatomical structure or function.
36
What is a disability?
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.
37
What is a handicap?
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.
38
Risk of Down's with increase in maternal age
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
39
% of Down caused by Full trisomy 21?
95%
40
Which syndrome results in a mutation of the HPRT1 gene?
Lesch-Nyan syndrome
41
Inheritance pattern for Lesch-Nyan Syndrome?
The condition is inherited in an X-linked recessive pattern.
42
closest estimate of the prevalence of schizophrenia in adults with a learning disability?
3%
43
What is the average full scale IQ in Turner syndrome?
90
44
Which medications associated with paradoxical reactions in people with learning difficulties?
Benzos
Paradoxical reaction = unexpected increases in aggressive behaviour, sexual disinhibition, hyperactivity, vivid dreams, and hostility
45
Prevalence rates for psychotic disorder in people with learning disabilities are approximately how many times greater than for the general population?
3x
46
Risk factors for self injury
Younger age
Lower developmental ability
Autistic symptoms
Sensory impairment
47
What percentage of Japanese children are estimated to have a reading ability delayed by one year?
16%
48
Whats the most common presenting feature of post-traumatic stress disorder in the learning disability population?
Aggression
49
Cluttered speech is a feature of which syndrome?
Fragile X
50
Which medication is recommended by NICE as first-line for the treatment of newly diagnosed generalised tonic-clonic epilepsy in patients with learning disabilities?
Sodium valproate
51
Which syndrome is associated with hypoxanthine phosphoribosyltransferase 1 deficiency?
Lesch-Nyan syndrome (build up of uric acid)
| Self-injury, including biting and head banging, is the most common and distinctive behavioral problem
52
What % of people with Neurofibromatosis 1 present with moderate-severe LD?
50%
53
What does Neurofibromatosis present with: macro/microcephaly?
macrocephaly
54
What is the inheritance pattern of Neurofibromatosis?
Autosomal dominant with 50% sporadic cases
55
What are the features of Neurofibromatosis?
- 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
56
What are some of the characteristics of Prader-Willi syndrome?
* 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
57
Is spasticity a characteristic Prader Willi syndrome?
No
58
A single neuclotide polyphormism of dopamine receptor 3 (DRD3) - rs167771 is associated with which condition?
Autism
59
Which neuroanatomical area is associated with rs167771 SNP and explains the symptoms of Autism?
Striatum
60
What's the most commonly associated comorbidity with Prader-Willi?
OCD
61
What are the features of Rett syndrome?
- 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
What causes Rett syndrome?
Mutation in transcription gene MECP2 on chromosome Xq28
63
What's the prevalece of Rett sydrome?
1 in 15 000 to 1 in 22 000
64
What's the inheritance pattern of tuberous sclerosis?
Autsomal dominance
| has 100% penetrance
65
What are the clinical features of tuberous sclerosis?
- 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
What are the features of Cornelia de Lang syndrome?
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
What is Angelman syndrome?
- 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
Which disorders are associated with 5HTT gene polymorphisms?
- Autism
- Increased fear and anxiety-related behaviours
- OCD
- suicidal behaviour in depressed patients
69
Down's syndrome overview
- 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
Cri du chat overview
- 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
Patau syndrome overview
- TRISOMY 13
- OVERLAPPING OF FINGERS OVER THUMB
- microcephaly
- cleft palate
- kidney and heart defects
72
Williams syndrome overview
- 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
Turner sydrome overview
- XO (nondisjuntion of parternal XY chromosome)
- SHORT STATURE, WEBBED NECK
- low hairline
- widely spaced nipples
- madelung deformity of the wrist
74
DiGeorge syndrome overview
- 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
Edward syndrome overview
- TRISOMY 18
- ROCKER BOTTOM FEET
- strcutural heart abnormalities
- kidney malformaions
- oesophageal atresia
- cleft palate
76
Lesch-Nyhan Syndrome
- X LINKED RECESSIVE (involving mutation on HPRTgene on Xq26-27)
- COMPULSIVE SELF MUTILATION, DYSTONIA, WRITHING MOVEMENTS
- dysphagia and dysarthria
- orange uricosuric acid sand
77
Klinefelter syndrome
- XXY (sporadic occurence)
- 1/1 000 males
- newborns clinicaly normal
- TALL WITH SMALL TESTICLES
- gynaecomastia
- testicular atrophy
- infertility
- median IQ is 90
78
Wolf-Hirschhorn syndrome
- CHROMOSOME 4 (partial deletion short arm)
- DOWN-TURNED FISHLIKE MOUTH GREEK WARRIOR HELMET FACE
- growth restriction
- severe LD
- seizures
- hyperteolorism and protruding eyes
79
Imprinting of the same region on a chromosome is associated with?
Prader-Willi and Angelman
80
Fragile X overview
- 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
Which gene is implicated in Fragile X syndrome?
- the FMR1 Gene is implicated
| - there are abnormal trinucleotide CGG repeat at a fragile site on the X chromosome (Xq27.3)
82
What is the process of x inactivation called?
Lyonisation
83
Maple Syrup urine disease has which inheritance pattern?
Autosomal recessive
84
47 XXX Syndrome
-Life expectancy of people with 47 XXX Syndrome is normal
85
inheritace pattern of coffin lowry syndrome
X linked dominant
86
Features of coffin lowry syndrome
```
Soft hands with short, tapered fingers
short stature
microcephaly
kyphoscoliosis
other skeletal abnormalities
LD
```
87
Specific 'reading retardation' is associated with
Conduct disorder
brain injury
family history of reading diffciculty
large families with overcrowding
88
What is the prevalence of depression among individuals with intellectual disabilities?
2-4%
89
'Hypertelorism' is a feature seen in which conditions?
DiGeorge syndrome
| Noonan syndrome, Edwards syndrome, cridu-chat syndrome and neurofibromatosis.
90
Smith Magenis syndrome overview
*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
Which syndrome confers protection from mania while increasing the risk for dementia?
Down
92
Who first described the term infantile Autism?
Kanner
93
Brain changes in Fragile X syndrome
- increased Hippocampal size may be increased
| - decreased cerebellar vermis size
94
What % of LD in boys does Fragile X account for?
10-12%
95
Whcih conditions are associated with autism?
- LD (50-60%)
- Epilepsy (22%) - Generalised tonic-clonic type seizures
- Tubberous Sclerosis
- Congenital rubella syndrome
- PKU
- ADHD, OCD, anxiety, depression, tics
96
Asperger's syndrome is characterised by delays in
Nonverbal communication
*Asperger's is characterised by impairments in social interaction, and restricted interests and behaviours seen in autism but normal language development
97
Features of hands of patients with Down's syndrome?
- Altered dermatoglyphics
- Incurving of fingers
- Webbed fingers (syndactyly)
- Short broad hands with a single palmar crease
98
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?
Axis II (For personality disorders or mental retardation)
99
Criteria for clinically significanct challenging behaviour
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
Which category of learning disability is more commonly associated with disruptive behaviours and misconduct?
Mild
101
What drug may be effective in the treatment of repetitive self-injury?
Naltrexone
102
Which drug is licensed for the control of aggressive behaviour or intentional self-harm in patients with a learning disability?
Lithium
103
What is true about the relationship between the length of triplet repeats and the IQ in people with Fragile X?
Length of triplet repeats is inversely related to the IQ
104
Which disorder is anxiety uncommon in?
Down's
105
Self-talk seems to be particularly common in children with
Down's
106
severe intellectual disability proportion of total LD
3-4%
107
The prevalence of epilepsy among patients with a learning disability is about
20-25%
108
Features of Lennox Gestaut syndrome
- 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
Age of onset for Lennox Gestaut syndrome
It mostly appears between the second and sixth year of life
110
What are the sleep pattern characteristics seen in Rett's syndrome?
excessive daytime sleep, reduced nocturnal sleep and increased total sleep time
111
What is the most common predisposing factor for developing learning disabilities?
Defects in embryogenesis
112
Technique used to treat stuttering
Prolonged speech
113
Risk of autism in 2nd child if first has autism
1-10%
114
Postnatal factor that increases the risk of learning disability?
Head injury
115
Prevalence of DiGeorge syndrome?
1 in 4500 people
116
Autosomal recessive conditions
Sanfilippo diseas
Hurler's syndrome
maple syrup urine disease
PKU
117
X-linked recessive conditions
Lesch-Nyhan syndrome and Hunter's syndrome
118
In whic syndrome of learning disability is anxiety disorder most common?
Fragile X
119
Prevalence of obesity in children with autism?
20%
120
XYY syndrome
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
Self-injurious behaviour occurs most frequently between the ages of
10-30 years
122
What is Hunter's Syndrome?
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
Whcih psychiatric condition is increased in people with borderline IQ compared to general population?
Schizophrenia
124
In adults with learning disabilities, dysphagia is a known side effect of which drug?
Clonazepam
| Olanzapine
125
The most common cause of death in Down syndrome is
Infections
126
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
the inclusion of pupils with intellectual disabilities to mainstream schools
127
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?
Translocation Down syndrome
128
Autosomal dominant conditions
Nuerofibromatosis
Tuberous Sclerosis
William's syndrome
129
Which baseline investigation must be done before initiating therapy in a patient with LD?
EEG
130
Which condition is commonly associated with atrioventricular defects in a child?
Down's
131
IQ scores for Borderline intellectual functioning
71-84
132
Rubinstein Taybi syndrome
- 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
This therapy may be used to help teach basic skills like toileting
Behavioural treatments e.g. shaping/chaining
134
This technique may be useful to deal with low self-esteem in mild LD
Cognitive therapy
135
Management of episodic dyscontrol and epilepsy in LD
Carbamezapine
136
Management of intractable sexual offending not responding to behavioural measures
Cyproterone acetate
137
Management of inappropriate sexual behaviours.
Behavioural treatments e.g. shaping/chaining
138
Laurence Moon Biedl syndrome
```
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
proportion of cases with learning disability caused by genetic inheritance
5%
140
proportion of cases with learning disability caused by pregnancy and perinatal problems
10%
141
proportion of cases with learning disability caused by acquired general medical problems
5%
142
proportion of cases with learning disability caused by environmental influences
15-20%
143
proportion of cases with learning disability with no definitive aetiology
30-40%
144
The prevalence of ADHD among patients with a learning disability is about
15-20%
145
The prevalence of self-injurious behaviour among patients with a learning disability is about
15-20%
146
Homocystinuria overview
* 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
San Filippo disease overview
*disorder of the breakdown of heparan sulphate
- severe LD
- claw hand
- dwarfism
- hypertrichosis
- hearing loss
- hepatosplenomegaly
- biconvex lumbar vertebrae
- joint stiffness
148
What year was the autism act passed?
2009
149
Which speech or cognitive problems would NOT be usually observed in Fragile X syndrome?
Impaired syyntax
150
Risk factors for autism
```
Sex of child
Family history
Genetic disorder - Rett/Fragile X
Prematurity
Low birth weight
Viral infections during pregnancy
```
