Aetiology and syndromes Flashcards
(135 cards)
1
Q
Clinical features of Usher’s syndrome
A
Retinitis pigmentosa
Congenital deafness
Vestibulocochlear ataxia
LD in 23% of cases
Psychosis in 15% of cases
2
Q
Behavioural features of Fragile X syndrome
A
Shy
Gaze avoidant
Social anxiety
Hyperactive
ASD in 10%
3
Q
Behavioural features of Prader-Willi syndrome
A
Insatiable appetite and food obsession
Skin picking
Impulsive
Aggressive
OCD
4
Q
Behavioural features of Smith-Magenis syndrome
A
Hyperactive
Impulsive
Aggressive
Stereotyped behaviours e.g. self hugging
Self injuring behaviour
5
Q
Behavioural features of Williams syndrome
A
Affectionate
Inattentive
Anxiety disorders
Phobias
6
Q
Behavioural features of Cornelia de Lange syndrome
A
Self injuring behaviour
7
Q
Behavioural features of Lesch-Nyhan syndrome
A
Severe self injuring behaviour
8
Q
Behavioural features of velo-cardio-facial syndrome
A
Psychosis
9
Q
Behavioural features of Rett syndrome
A
Stereotyped hand movements
Reduced interest in play in early years
ASD type symptoms
10
Q
Behavioural features of Angelman syndrome
A
Puppet like gait
Laughing often
Attraction to water
11
Q
Behavioural features of cri du chat syndrome
A
Inappropriate laughter
Cat like cry in infancy
12
Q
Behavioural features of sanfilippo syndrome
A
Sleep disturbances
Impulsivity
13
Q
Most common genetic cause of LD
A
Down’s syndrome
14
Q
Incidence of Down’s syndrome
A
1 in 1000 live births
15
Q
Incidence of Down’s syndrome in women <30
A
1 in 2500
16
Q
Incidence of Down’s syndrome in women >40
A
1 in 80
17
Q
Incidence of Down’s syndrome in women >45
A
1 in 32
18
Q
Three genetic forms of Down’s syndrome
A
Full trisomy (non-disjunction)
Robertsonian translocation
Mosaic Down’s syndrome
19
Q
Percentage of cases of Down’s syndrome caused by non-disjunction
A
92-95%
20
Q
Percentage of cases of Down’s syndrome caused by Robertsonian translocation
A
2-4%
21
Q
Percentage of cases of Down’s syndrome caused by mosaicism
A
1-2%
22
Q
Facial features of Down’s syndrome
A
Upward slanting palpebral fissures
Flat wide nasal bridge
Protruding tongue
Small mouth
Close set eyes
Brushfield spots
Epicanthic folds
Low set ears
23
Q
Most common cardiac defect in people with Down’s syndroem
A
AVSD
24
Q
Non-facial physical features of Down’s syndrome
A
Hypotonia
Short stature
Overweight
Single palmer crease
Sandal gap
Undescended testicles in 20%
25
Physical comorbidities common in Down's syndrome
Congenital heart disease
Testicular cancer
ALL
Oesophageal atresia
Hirschsprung disease
Umbilical and inguinal hernias
Poor eyesight - myopia, strabismus
Poor hearing - otitis media, sensorineural deafness
Hypothyroidism
Diabetes
Epilepsy
26
Percentage of people with Down's syndrome with a congenital heart defect
40%
27
Average IQ of someone with Down's syndrome
50
28
Incidence of Fragile X syndrome
1 in 3000
29
Most common inherited cause of LD
Fragile X syndrome
30
Triplet repeat seen in Fragile X syndrome
CGG
31
Gene affected in Fragile X syndrome
FMR1
32
Learning disability seen in women with Fragile X syndrome
Mild
33
Learning disability seen in men with Fragile X syndrome
Moderate/severe
34
Physical features of Fragile X syndrome
Large head
Large ears
Long, narrow face
Short stature
Macro-orchidism
Hyperflexible joints
35
Percentage of patients with Fragile X syndrome who have seizures
20-25%
36
Incidence of Turner's syndrome
1 in 2000 to 1 in 5000 live born females
37
Percentage of conceptions with Turner's syndrome which end in spontaneous abortion
99%
38
Physical features of Turner's syndrome
Short stature
Low hairline
Webbed neck
Low set ears
Broad chest
Widely spaced nipples
39
Congenital malformations associated with Turner's syndrome
VSD
Coarctation of the aorta
40
Behavioural features of Turner's syndrome
Distractibility
Poor social skills
Poor self esteem
No LD
41
Incidence of triple X syndrome
1 in 1000 live born females
42
Percentage of people with triple X syndrome who have mild LD
60-70%
43
Psychiatric comorbidities seen in triple X syndrome
Anxiety
Possible association with schizophrenia
44
Incidence of Klinefelter's syndrome
1 in 500 to 1 in 1000 live born males
45
Physical features of Klinefelter's syndrome
Infertility
Sparse body hair
Hypogonadism
Gynaeocomastia
46
LD seen in Klinefelter's syndrome
Skewed distribution
Median IQ 90
Most people have IQ in range 60-70
47
Behavioural features of Klinefelter's syndrome
Poor school performance
Introversion
Lack of assertion
48
Incidence of XYY
1 in 1000 live born males
49
Behavioural features of XYY
Often associated with behavioural problems
50
Chromosome affected in Prader-Willi syndrome
15
51
Parental chromosome responsible for Prader-Willi syndrome
Paternal
52
Incidence of Prader-Willi syndrome
1 in 10000 to 1 in 25000 live births
53
Features of Prader-Willi syndrome in infancy
Hypotonia
Lethargy
Poor feeding and failure to thrive
Breech birth
Sleepiness
54
Characteristic features of Prader-Willi syndrome in older children and adults
Hyperphagia
Obesity
Hypotonia
Hypogonadism
Infertility
Flexibility
Borderline/mild LD
55
Physical features of Prader-Willi syndrome
Small hands and feet
Hypogonadism
Almond shaped eyes
Thin upper lip
Downturned mouth
Striae
56
Chromosome affected in Angelman syndrome
15
57
Parental chromosome responsible for Angelman syndrome
Maternal
58
LD seen in Angelman syndrome
Severe/profound
59
Facial features of Angelman syndrome
Fair hair
Blue eyes
Microcephaly
60
Prevalence of Angelman syndrome
1 in 20000 to 1 in 30000
61
Percentage of people with Angelman syndrome with epilepsy
90%
62
Chromosome affected in Williams Syndrome
7
63
Incidence of Williams Syndrome
1 in 7500 to 1 in 20000 live births
64
Electrolyte abnormality in Williams Syndrome
Hypercalcaemia
65
LD seen in Williams Syndrome
Mild to moderate
66
Medical problems associated with Williams syndrome
Renal abnormalities
Supravalvular aortic stenosis
Thyroid abnormalities
Hypercalcaemia
67
Physical features of Williams syndrome
Short stature
Elfin like face
Broad forehead
Premature wrinkling
68
Behavioural features of Williams syndrome
Anxiety, fearfulness and difficulty making friends OR
Outgoing and excessively friendly
Verbal skills comparatively good
69
Chromosome affected in Cri du chat syndrome
5
70
Incidence of Cri du chat syndrome
1 in 15000 to 1 in 50000 live births
71
Physical features of Cri du chat syndrome
Microcephaly
Round face
Epicanthic folds
Broad flat nose
Slanting palpebral fissures
Low set ears
72
LD seen in Cri du chat syndrome
Severe to profound
73
Chromosome affected in Smith-Magenis syndrome
17
74
Incidence of Smith-Magenis syndrome
1 in 25000 live births
75
Physical features of Smith-Magenis syndrome
Flattened mid face
Short hands and feet
Single palmar crease
High arched palate
Small toes
Protruding tongue
76
Chromosome affected in DiGeorge syndrome
22
77
Prevalence of DiGeorge syndrome
1 in 4000
78
LD seen in DiGeorge syndrome
Mild to moderate in >50%
79
Facial features of DiGeorge syndrome
Microcephaly
Cleft palate
Small mouth
Long face
80
Electrolyte abnormality seen in DiGeorge syndrome
Hypocalcaemia
81
Percentage of people with tuberous sclerosis who have seizures
90%
82
LD seen in tuberous sclerosis
Absent to profound
83
Clinical features of tuberous sclerosis
Hamartomas of the CNS
Ash leaf spots
Nail fibromas
84
Chromosomes affected in tuberous sclerosis
9
16
85
Chromosome affected in neurofibromatosis
17
86
Tumours seen in NF I
Benign neurofibromas in the CNS
87
Tumours seen in NF II
Acoustic neuromas leading to hearing loss
88
Clinical features of NF
Cafe au lait spots
Neurofibromas
Axillary freckling
Lisch nodules
89
Psychiatric features of NF
Speech and language difficulties
Moderate to profound LD in 10%
Distractibility
Hyperactivity
Anxiety
90
Enzyme which is defective in PKU
Phenylalanine hydroxylase
91
Characteristic features of untreated PKU
Microcephaly
Hypopigmentation of the skin
Language delay
Severe LD
Hyperactivity
Self injuring behaviour
Musty odour of the skin
92
Features of Laurence-Moon-Biedl syndrome
Retinitis pigmentosa
Polydactyly
Night blindness
Hypogonadism
Mild to moderate LD
Diabetes
Renal issues
93
Substance build up seen in Lesch-Nyhan syndrome
Uric acid
94
Sex most affected by Lesch-Nyhan syndrome
Male
95
Features of Lesch-Nyhan syndrome
Hypotonia
Extra-pyramidal features at 9 months
Hyperreflexia and clonus at 1 year
Seizures
Uncontrollable self injury
Kidney failure
96
Incidence of congenital hypothyroidism
1 in 4000 live births
97
Clinical features of congenital hypothyroidism
Puffy face
Large tongue
Dry hair
Constipation
Low muscle tone
Jaundice
LD if untreated
98
Percentage of LD in males accounted for by Fragile X syndrome
10-12%
99
Characteristic findings on brain imaging of someone with Fragile X syndrome
Enlarged ventricles
Enlarged hippocampus
Enlarged caudate nuclei
Reduced posterior cerebellar vermis
100
Age of onset of Lennox Gastaut syndrome
3-5
101
Triad of features seen in Lennox Gastaut syndrome
Multiple drug resistant seizure types
EEG of slow wave spikes
LD
102
Sleep pattern seen in Rett syndrome
Excessive somnolence
103
Most common aetiological cause of LD
Defects in embryogenesis
104
Rate of autism in a child with an affected sibling
1-10%
105
Syndrome associated with compulsive self mutilation
Lesch-Nyhan
106
Inheritance manner of tuberous sclerosis
Autosomal dominant
107
Percentage of people with ASD who are also obese
20%
108
Mode of inheritance of Fragile X syndrome
X linked dominant
109
Heritability of autism
80-90%
110
Mode of inheritance of Hunter syndrome
X linked recessive
111
Most common cause of death in people with Down's syndrome
Infections
112
Sex most affected by Rett syndrome
Female
113
Pattern of inheritance of PKU
Autosomal recessive
114
Syndrome associated with stereotyped, hand wringing movements
Rett syndrome
115
Syndrome associated with attraction to water
Angelman syndrome
116
Syndrome associated with intolerance to noise
Rubinstein Taybi syndrome
117
Syndrome caused by mutations in a gene coding for the enzyme responsible for purine synthesis
Lesch-Nyhan
118
Condition associated with night blindness, central obesity, and polydactyly
Laurence-Moon-Biedl
119
Percentage of cases of LD caused by genetic inheritance
5%
120
Percentage of cases of LD caused by pregnancy related and perinatal problems
10%
121
Percentage of cases of LD caused by acquired general medical conditions
5%
122
Percentage of cases of LD caused by environmental influences
15-20%
123
Percentage of cases of LD with no definite aetiology
30-40%
124
Percentage of people with Down's syndrome who have epilepsy
5-10%
125
Percentage of people with Fragile X syndrome who have epilepsy
20-25%
126
Percentage of people with Rett syndrome who have epilepsy
90%
127
Percentage of people with Angelman syndrome who have epilepsy
90%
128
Percentage of people with tuberous sclerosis who have epilepsy
90%
129
Mode of inheritance of Lesch-Nyhan syndrome
X linked recessive
130
Gene associated with Rett syndrome
MECP2
131
Gene associated with Fragile X syndrome
FMR1
132
Clinical features of homocystinurea
Mild LD
Marfanoid stature
Visual problems and lens dislocation
Chest deformities
133
Clinical features of Sanfilippo disease
Dwarfism
Claw hand
Increased body hair
Severe LD
Joint stiffness
Hepatosplenomegaly
134
Neuroimaging findings in fragile X syndrome
Reduction of the cerebellar vermis
Enlargement of the fourth ventricle
135
Neuroimaging findings in Down syndrome
Reduced total brain volume
Reduced grey matter volume
Reduced hippocampus and amygdala size
Generalised atrophy for age
