TY - JOUR
T1 - Cognitive outcome in children with rhombencephalosynapsis
AU - Poretti, Andrea
AU - Alber, Fabienne Dietrich
AU - Bürki, Sarah
AU - Toelle, Sandra P.
AU - Boltshauser, Eugen
N1 - Funding Information:
We thank the patients and her families for participating in our study. Dr. Poretti was financially supported by a donation made through the United Bank of Switzerland (UBS) at the request of an anonymous client.
Copyright:
Copyright 2009 Elsevier B.V., All rights reserved.
PY - 2009/1
Y1 - 2009/1
N2 - Purpose: Rhombencephalosynapsis is a rare congenital cerebellar malformation increasingly recognized by prenatal and neonatal neuroimaging. Cognitive outcome seems to be variable but is not well documented. Aims and methods: To study neurological, behavioural, and cognitive functions of patients with non-syndromic rhombencephalosynapsis, five patients (three female and two male, mean age at the time of this study 8.9 years, range 4.3-17.3 years) were assessed by neurological examination and several tests of behaviour and cognitive functions. Results: Ataxia was present in all patients, but daily life activities were partly restricted in only one. Other symptoms were muscular hypotonia, abnormal eye movements, and head stereotypies. Three patients had pathological scores on both attention and hyperactivity/impulsivity scales. Only two patients had normal full-scale IQ (IQ value of 109 and 114, respectively). Verbal and/or performance IQ were impaired in three. Conclusion: In non-syndromic rhombencephalosynapsis the clinical presentation is variable. Attention deficit and hyperactivity disorders are frequent behavioural problems. Cognitive functions are mostly impaired, as mild intellectual impairment without a typical cognitive profile. However, rhombencephalosynapsis is compatible with normal cognitive functions. No definitive correlation between cognitive impairment and additional supratentorial abnormalities could be established.
AB - Purpose: Rhombencephalosynapsis is a rare congenital cerebellar malformation increasingly recognized by prenatal and neonatal neuroimaging. Cognitive outcome seems to be variable but is not well documented. Aims and methods: To study neurological, behavioural, and cognitive functions of patients with non-syndromic rhombencephalosynapsis, five patients (three female and two male, mean age at the time of this study 8.9 years, range 4.3-17.3 years) were assessed by neurological examination and several tests of behaviour and cognitive functions. Results: Ataxia was present in all patients, but daily life activities were partly restricted in only one. Other symptoms were muscular hypotonia, abnormal eye movements, and head stereotypies. Three patients had pathological scores on both attention and hyperactivity/impulsivity scales. Only two patients had normal full-scale IQ (IQ value of 109 and 114, respectively). Verbal and/or performance IQ were impaired in three. Conclusion: In non-syndromic rhombencephalosynapsis the clinical presentation is variable. Attention deficit and hyperactivity disorders are frequent behavioural problems. Cognitive functions are mostly impaired, as mild intellectual impairment without a typical cognitive profile. However, rhombencephalosynapsis is compatible with normal cognitive functions. No definitive correlation between cognitive impairment and additional supratentorial abnormalities could be established.
KW - Ataxia
KW - Behavioural problems
KW - Cerebellar cognitive affective syndrome
KW - Cerebellum
KW - Cognitive functions
KW - Rhombencephalosynapsis
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U2 - 10.1016/j.ejpn.2008.02.005
DO - 10.1016/j.ejpn.2008.02.005
M3 - Article
C2 - 18407532
AN - SCOPUS:57449115433
SN - 1090-3798
VL - 13
SP - 28
EP - 33
JO - European Journal of Paediatric Neurology
JF - European Journal of Paediatric Neurology
IS - 1
ER -