williams syndrome
TRANSCRIPT
Neuropsychiatric aspects of Williams Syndrome
2009. 7. 3Department of Psychiatry
(Division of child and Adolescent Psychiatry) Children's Hospital, Seoul National University Hospital
Williams Syndrome
Rare neurodevelopmental disorder Prevalence of 1 in 7,500 to 1 in 20,000 Deletion of about 28 genes on chromosome
7q11.23
“Elfin" facial appearance
First identified in 1961 by Dr. J.C.P Williams of New Zealand
Symptoms
Highly verbal and sociable but lack of common sense
Developmental delay and low intelligence, particular difficulty with visuospatial skills
Hyperacusis
Love of music, and perfect pitch
General intelligence
Mean IQ of individuals with WS between 50 and 60, with a range of 40–100
A relative verbal strength
in comparison to significant visuospatialweaknesses
Language skillsNarrative
Outperform than normal controls of similar mental age
Used significantly more affective enhancers such as ‘Oh my, oh my!’ and ‘Suddenly’
In contrast, the typical children used more cognitive inferences ‘the boy thinks’, ‘because the boy was…’
Intentionally keep the listener engaged
Language skillsReceptive vocabulary versus general intelligence
윌리엄스 증후군 아동의 수용언어가 정상 아동에 비해서 뒤쳐지지 않는다는 기존 연구
최근 들어서는 이에 대해 상반되는 연구결과들이 보고되고 있음
Receptive vocabulary의 문제
Visuospatial and face processing skills
Visuospatial function의 문제
원인은 불명확
Weak dorsal visual stream (process information about the position of objects)
Motor planning deficit
Visuospatial function deficit
Drawing of a bicycle by a 9 year old withWS showing pronounced problems with visuospatial construction.
Visuospatial and face processing skills
Facial processing skill은 상대적으로 보존되어 있음
Equivalent to mental age-matched controls
Significantly below chronological age-matched controls
Behavior patterns and hypersociability
‘Unusually sociable, friendly, and empathic’
Hypersociability phenotype 은 일반적인 친근함과는 다르다.
Sociability의 neural substrate에 대한연구들이 진행되고 있음
Musical skills
Having affinities with music and preserved musical skills
It has been suggested that individuals with WS possess absolute pitch
Hyperacusis
약 95%의 WS에서 hyperacusis 보고됨
Distortion in the neural coding of the auditory input abnormal growth in loudness
반응을 습관화하는 중추신경계 능력의 결함
WS에서 흔히 보이는 fear, anxiety와 연관될수도 있음
Brain structure and function
Cerebral volume 유의미한 감소
Cerebellar volume, temporal-limbic volume은 보존
Cerebral white matter volume 유의미한 감소
Cerebral gray matter volume 은 상대적으로보존
Parietal / occipital lobe volume 에 비해frontal lobe volume의 비율이 높음
Brain structure and function
Apparent sparing of limbic structures
in contrast to significant volume reductions in parietal and occipital cortex
-> Exaggerated hypersociability and deficient visuospatial skills
Brain structure and function
Perisylvian / inferior temporal region의enhanced cortical thickness 가 관찰 상대적으로 보존되어 있는 언어 능력, 음악 능력과
연관되어 있는 것으로 추정.
Functional study Striatum, dorsolateral prefrontal cortex, dorsal
anterior cingulate cortex에서 activity 감소
행동 억제의 문제와 연관
Prevalence of psychopathology in children with WS (N=119)
Am J Med Genet B Neuropsychiatric Genet.2006
WS에서 흔한 정신과 질환
ADHD 유병률 64.7%
약 2/3는 inattentive type (68.8%)
약 1/3은 combined type (27.3%)
특정 공포증 53.8%
큰 소음 27.7%
천둥 6.3%
소리에 대한 민감성
WS에서 흔한 정신과 질환
GAD 약 12%
Anticipatory worry
다양한 사건들에 대한 예기불안
막상 사건이 일어나면 불안은 사라짐
강박(obsessiveness)과 염려(worry)의 경계선상에 있는 듯한 증상들
시간 소모, 환아들을 힘들게 함
Treatment
No curative therapy
Supportive care
Developmental and psychoeducational assessment
Many other examination, laboratory, and anticipatory guidance recommendations
Reference Research Review: Williams syndrome:a critical review of the cognitive,
behavioral,and neuroanatomical phenotype
<Journal of Child Psychology and Psychiatry 49:6 (2008), pp 576–608>
Insights into brain development from neurogenetic syndromes: Evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome
<Neuroscience (2009), doi: 10.1016/j.neuroscience.>
Williams Syndrome:15 Years of Psychological Research
<Developmental neuropsychology, 23, 1-12 >
Language and communicative development in williams syndrome
< Mental retardation and developmental disabilities 13:3-15(2007)>
Brain abnormalities in Williams syndrome: A review of structural and functional magnetic resonance imaging findings
< European journal of paediatric neurology 13(2009)305 – 316>
Defining the social phenotype in Williams syndrome: A model for linking gene, the brain,and behavior
<Development and Psychopathology 20 (2008), 1–35>