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362 A contribution to the genetics of petit mal epilepsy
A61
Abstracts
088 X-linked mental retardation marfanoid habitus B JOHN, J KijHLER, Children’s Hospital Bonn, Germany
with macrosomia and
F HAVERKAMP Medical
Centre,
University
of Bonn,
We report on two brothers aged 7 and 9 years, who were presented to us for evaluation of their mental retardation. Pregnancy and birth at term had been uneventful. Their early psychomotoric development had been normal except for a slight delay in speech development. Noteworthy in family history is the fact that one brother of their mother is severely mentally retarded (height 1.80 cm, 75 percentile [pert]). Bother patients were extremely tall (height >97 pert, weight 90 pert, head circumference 50-75 and 50 pert) while the expected height, based on parenteral height, was between the 25 and 50 percentile. Their habitus was slender and they had kyphosis of the thoracic spine. The neurological examination gave normal results except for minor neurological dysfunction. Their intelligence was subnormal (Kaufman developmental score < 1 pert). Cytogenic examination showed a 46,XY normal lymphocytic karyotype and no fragile X was found. The results of metabolic screening tests, cerebral MRI and ophthalmological and cardiological examinations were normal. The pedigree suggests an X-linked inheritance. The phenotypic changes in our patients together with mental retardation correspond to a form of X-linked mental retardation with marfanoid habitus previously described by two authors (Lujan and Fryns) in a total of eight patients. Until today more than 20 patients with the Lujan-Fryns syndrome have been described. As with the uncle of our patients, not all of the affected patients had macrosomia. As a consequence, attention should be paid to marfanoid changes in the evaluation of mentally retarded males, especially if there is suspicion of Xlinked inheritance.
096
Cognition and motor function in Prader-Willi syndrome compared with siblings B KLOWAT, S SCHQN, H TEBARTH, B JOHN, F HAVERKAMP Paediatric Germany
Centre of the University
of Bonn,
Bonn,
Introduction: Prader-Willi syndrome is a complex dissystems with many order affecting multiple manifestations. Major findings include infantile muscle hypotonia, mental retardation and developmental delay, behavioural disorder, characteristic facial appearance, hypogonadism and extreme obesity. It is well known that patients with Prader-Willi syndrome show a wide variation in intellectual functioning. Familiar covariance regarding intelligence between siblings or with parents in normal population has been established. In our study we were interested in common variance regarding intellectual as well as motor functioning in children with Prader-Willi syndrome and their siblings.
Methods and results: 16 Prader-Willi children (aged between 4 and 14 years) were evaluated for cognitive information processing styles using the Kaufman Assessment Battery of Children (K-ABC). Neurological examination and fine and gross motor proficiency were assessed by the Bruininks-Oseretsky-Test. Regarding intellectual performance eight siblings were analysed and correlation coefficients between children with Prader-Willi syndrome and siblings were calculated. As far as the scale of sequential cognitive information cognitive processing (=SEQ), scale of simultaneous information processing (=SIM) or scale of intellectual abilities (=SIA) are concerned no correlation was found between children with Prader-Willi syndrome and their siblings. A correlation coefficient of r=0.4 was seen between acquired abilities such as identifying objects and calculating. Motor proficiency was specifically impaired in children with Prader-Willi syndrome. There was no significant correlation regarding motor function compared with siblings. Conclusion: Due to severe psychomotor retardation and severe muscle hypotonia, instruments were unable to provide evidence for familiar covariance in these functions. Interestingly, we found a good correlation regarding acquired abilities between children with Prader-Willi syndrome and their siblings. This indicates that patients from families with a high educational input are better able to develop acquired abilities which should have a greater influence on their developmental outcome.
362
A contribution
to the genetics of petit mal epilepsy
M KNEZEVIC-POGANCEV, institute for Children Yugoslavia
A SREK
and Youth Health
Care, Novi Sad,
Spontaneous standard EEG was recorded for siblings of four patients with resistant atypical absence seizures. Non-specific discharges and high comition readiness was registered in 47% of siblings, all aged under 6 years. The greatest number of discharges occurred during hyperventilation - 67%, and during C stage of sleep 33%. Specific discharges (3-cps spike-wave complex during hyperventilation) occurred in 28% of siblings without absence attacks and in one with clinical attack (noted during EEG registration for the first time). All siblings were aged 6-10 years. During the follow-up period of 3 years, 4% of siblings with non-specific discharges during hyperventilation had absence attacks, but not one from the group with specific discharges.
259
Characteristics
of Rett syndrome in Alabama, USA
] B LANE, A K PERCY University Pediatrics
of Alabama (Neurology),
at Birmingham, Department of Birmingham, Alabama, USA
Background: Rett syndrome is a disorder affecting females and featuring an arrest of normal neural development.
Abstracts
088 X-linked mental retardation marfanoid habitus B JOHN, J KijHLER, Children’s Hospital Bonn, Germany
with macrosomia and
F HAVERKAMP Medical
Centre,
University
of Bonn,
We report on two brothers aged 7 and 9 years, who were presented to us for evaluation of their mental retardation. Pregnancy and birth at term had been uneventful. Their early psychomotoric development had been normal except for a slight delay in speech development. Noteworthy in family history is the fact that one brother of their mother is severely mentally retarded (height 1.80 cm, 75 percentile [pert]). Bother patients were extremely tall (height >97 pert, weight 90 pert, head circumference 50-75 and 50 pert) while the expected height, based on parenteral height, was between the 25 and 50 percentile. Their habitus was slender and they had kyphosis of the thoracic spine. The neurological examination gave normal results except for minor neurological dysfunction. Their intelligence was subnormal (Kaufman developmental score < 1 pert). Cytogenic examination showed a 46,XY normal lymphocytic karyotype and no fragile X was found. The results of metabolic screening tests, cerebral MRI and ophthalmological and cardiological examinations were normal. The pedigree suggests an X-linked inheritance. The phenotypic changes in our patients together with mental retardation correspond to a form of X-linked mental retardation with marfanoid habitus previously described by two authors (Lujan and Fryns) in a total of eight patients. Until today more than 20 patients with the Lujan-Fryns syndrome have been described. As with the uncle of our patients, not all of the affected patients had macrosomia. As a consequence, attention should be paid to marfanoid changes in the evaluation of mentally retarded males, especially if there is suspicion of Xlinked inheritance.
096
Cognition and motor function in Prader-Willi syndrome compared with siblings B KLOWAT, S SCHQN, H TEBARTH, B JOHN, F HAVERKAMP Paediatric Germany
Centre of the University
of Bonn,
Bonn,
Introduction: Prader-Willi syndrome is a complex dissystems with many order affecting multiple manifestations. Major findings include infantile muscle hypotonia, mental retardation and developmental delay, behavioural disorder, characteristic facial appearance, hypogonadism and extreme obesity. It is well known that patients with Prader-Willi syndrome show a wide variation in intellectual functioning. Familiar covariance regarding intelligence between siblings or with parents in normal population has been established. In our study we were interested in common variance regarding intellectual as well as motor functioning in children with Prader-Willi syndrome and their siblings.
Methods and results: 16 Prader-Willi children (aged between 4 and 14 years) were evaluated for cognitive information processing styles using the Kaufman Assessment Battery of Children (K-ABC). Neurological examination and fine and gross motor proficiency were assessed by the Bruininks-Oseretsky-Test. Regarding intellectual performance eight siblings were analysed and correlation coefficients between children with Prader-Willi syndrome and siblings were calculated. As far as the scale of sequential cognitive information cognitive processing (=SEQ), scale of simultaneous information processing (=SIM) or scale of intellectual abilities (=SIA) are concerned no correlation was found between children with Prader-Willi syndrome and their siblings. A correlation coefficient of r=0.4 was seen between acquired abilities such as identifying objects and calculating. Motor proficiency was specifically impaired in children with Prader-Willi syndrome. There was no significant correlation regarding motor function compared with siblings. Conclusion: Due to severe psychomotor retardation and severe muscle hypotonia, instruments were unable to provide evidence for familiar covariance in these functions. Interestingly, we found a good correlation regarding acquired abilities between children with Prader-Willi syndrome and their siblings. This indicates that patients from families with a high educational input are better able to develop acquired abilities which should have a greater influence on their developmental outcome.
362
A contribution
to the genetics of petit mal epilepsy
M KNEZEVIC-POGANCEV, institute for Children Yugoslavia
A SREK
and Youth Health
Care, Novi Sad,
Spontaneous standard EEG was recorded for siblings of four patients with resistant atypical absence seizures. Non-specific discharges and high comition readiness was registered in 47% of siblings, all aged under 6 years. The greatest number of discharges occurred during hyperventilation - 67%, and during C stage of sleep 33%. Specific discharges (3-cps spike-wave complex during hyperventilation) occurred in 28% of siblings without absence attacks and in one with clinical attack (noted during EEG registration for the first time). All siblings were aged 6-10 years. During the follow-up period of 3 years, 4% of siblings with non-specific discharges during hyperventilation had absence attacks, but not one from the group with specific discharges.
259
Characteristics
of Rett syndrome in Alabama, USA
] B LANE, A K PERCY University Pediatrics
of Alabama (Neurology),
at Birmingham, Department of Birmingham, Alabama, USA
Background: Rett syndrome is a disorder affecting females and featuring an arrest of normal neural development.