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Biomedical subjects

O F Brouwer

Publications and source records attributed to O F Brouwer.

At least 55 records · Page 3Linked to original sources
PubMed1997

Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities.

A survey was performed of magnetic resonance imaging (MRI) findings in 21 patients with congenital muscular dystrophy (CMD) with cerebral abnormalities to evaluate the contribution of MRI to the classification of CMD patients. In 5 patients with Walker-Warburg syndrome (WWS), MRI showed hydrocephalus due to aqueduct stenosis, generalized cerebral cortical agyric or pachygyric polymicrogyria, diffuse cerebral hemispheric white matter abnormalities, and malformations of posterior fossa structures. In 4 patients with muscle-eye-brain disease, MRI showed cortical dysplasia, but less severe than in WWS. The cerebral white matter either was normal or contained multiple focal abnormalities. Malformations of posterior fossa structures were present. Eight patients, classified as having classic merosin-deficient CMD (MD-CMD), had diffuse cerebral hemispheric white matter abnormalities, no other abnormalities. One patient with MD-CMD had only a few, focal white matter abnormalities. Three CMD patients had occipital agyria, otherwise normal gyration, multifocal or more diffuse cerebral white matter changes, and variable hypoplasia of pons and vermis. Two of the 3 patients had negative muscle merosin staining. The conclusion of the study is that MRI is an important adjunct in the classification of CMD patients. CMD with occipital agyria can be regarded as a newly recognized, separate CMD subtype.

Adolescent↗
PubMed1997

Hereditary epilepsy syndromes.

This paper reviews the present knowledge on the genetics of the epilepsies. Main clinical features, gene localization and pattern of inheritance of the idiopathic epilepsies, the progressive myoclonus epilepsies, and some other genetic disorders often associated with epilepsy, are described.

Chromosome Mapping↗
PubMed1997

Disability due to restrictions in childhood epilepsy.

Parents and doctors impose restrictions on children with epilepsy to avoid seizure-related injuries. We intended to quantify disability due to such restrictions by using a newly developed parent-completed 10-item scale (The Hague Restrictions in Childhood Epilepsy Scale, HARCES). Parents reported disability on at least one item of the HARCES in 83% of 122 children with epilepsy and a remission from seizures for less than 1 year. Psychometric analysis of the scale's reliability demonstrated good internal consistency and retest stability. Its validity was supported by the association between HARCES scores and the physicians' advice imposing restrictions. We found no substantial association with such variables as seizure type, short-term remission, or seizure activity. These findings suggest that in children with recurrent seizures, restrictions were probably not optimally adapted to seizure-related risks. A repeat test after 1 year showed that a seizure remission of more than 1 year substantially reduced restrictions, which is probably associated with an improvement in quality of life.

Adolescent↗
PubMed1997

Evolution of epilepsy and EEG findings in Angelman syndrome.

PURPOSE: To evaluate the evolution of epileptic seizures and EEG features in a large group of patients with Angelman syndrome (AS). METHODS: Thirty-six patients with AS with a proven chromosome 15q11-13 deletion were retrospectively analyzed with regard to their epilepsy and EEG findings by examination of patient files and EEGs. AIJ EEGs were reviewed by one of the authors. A logistic regression model, with a follow-up from 1 to 39 years (mean, 15 years), was used for statistical analysis. RESULTS: Epileptic seizures had occurred in 30 (83%) patients. In 43% of them, the initial symptoms of epilepsy were febrile convulsions in infancy. In childhood, epilepsy could start with almost any type of seizure. Atypical absences and myoclonic seizures prevailed in adulthood. Epileptic seizures were present in 92% of the adult patients. The most typical EEG findings were rhythmic triphasic delta waves of high amplitude with a maximum over the frontal regions, identified in 99 (66%) of 150 EEGs, and continuously or intermittently, in 30 (83%) of 36 patients with AS. In 47% it was present even before a clinical diagnosis of AS was considered. High-amplitude rhythmic 4-6/s slow activity, seen in 44 (29%) of 150 EEGs, was not present after the age of 12 years. CONCLUSIONS: In contrast to previous reports suggesting a decreasing frequency of epileptic seizures with age, we found that 92% of the adult patients with AS continued to have epileptic seizures. The most typical EEG finding in AS, in both children and adults, was the presence of frontal triphasic delta waves. In mentally retarded patients, this EEG pattern should point the physician in the direction of AS.

Adolescent↗
PubMed1997

Seizure severity in children with epilepsy: a parent-completed scale compared with clinical data.

PURPOSE: We wished to compare a parent-completed scale quantifying seizure severity (SS) in children with various seizure types with the clinicians' impression of SS and other clinical data. METHODS: The parents of 117 children with recurrent seizures completed a 13-item, subjective scale (The Hague Seizure Severity Scale, HASS). Eight treating neurologists quantified SS on a 10-point Visual Analog Scale (VAS) and supplied other clinical data. RESULTS: Both the HASS and the VAS assessments of SS showed considerable variation within one seizure type. Significant differences were noted between groups with (a) absences and simple partial seizures (SPS), (b) complex partial seizures (CPS), and (c) generalized tonic-clonic seizures (GTCS). The correlation coefficient between the neurologists' and the parents' scores was 0.45 but did not exceed 0.26 after stratification for seizure type. The parents' score was not substantially influenced by various other clinical variables. The neurologists' score was correlated with resistance to treatment and presence of mental retardation. CONCLUSIONS: The SS ratings of the parents and the neurologists were not substantially correlated. The consideration that parents, as eyewitnesses to the seizures, are probably better judges of SS than clinicians may favor the use of a parent-completed scale to quantify SS. The HASS is a valid and reliable measure of parent-perceived SS that can be useful as an outcome measure in childhood epilepsy.

Age Factors↗
PubMed1997

The diagnostic yield of a second EEG after partial sleep deprivation: a prospective study in children with newly diagnosed seizures.

PURPOSE: To assess the diagnostic yield of a repeated EEG (REPEEG) after partial sleep deprivation (SD) in children and adolescents with one or more seizures who previously had had a standard EEG (STDEEG) without epileptiform abnormalities (EAs). In the literature, 32-75% of such REPEEGs after SD were reported to show EA. METHODS: In a prospective, multicentred study, we selected children aged 1 month to 16 years with one or more idiopathic or remote symptomatic newly diagnosed seizures. A REPEEG was recorded in children without EAs in their STDEEG. RESULTS: Of 552 children and adolescents who entered the study, 243 (44%) had a STDEEG without EAs. In 177 (73% of eligible children), REPEEGs were recorded after SD. We found EAs in 61 (34.5%) REPEEGs and new nonepileptiform abnormalities in five (1%). In 552 children in the total cohort, the REPEEG thus added 11% with EAs to the 56% with EAs in the STDEEG. Of REPEEGs, 81% included sleep compared with 20% of STDEEGs. In about half the REPEEGs, EAs occurred during sleep only. One child had tonic-clonic seizures probably related to the SD. CONCLUSIONS: One third of REPEEGs yielded new diagnostic information. Partial, age-dependent SD was highly effective in inducing sleep, which is important because in many cases EAs were found only during EEG recording in sleep. The procedure was safe and convenient.

Adolescent↗
PubMed1997

Partial cosegregation of familial hemiplegic migraine and a benign familial infantile epileptic syndrome.

PURPOSE: We studied a large Dutch-Canadian family, in which two very rare hereditary paroxysmal neurologic disorders, familial hemiplegic migraine (FHM) and a "benign familial infantile epileptic syndrome" concur and partially cosegregate. FHM is a dominantly inherited subtype of migraine with attacks of hemiparesis, linked to chromosome 19p13 in 50% of the families tested. Recently mutations in a brain-specific P/Q-type Ca2+ channel alpha1 subunit gene (CACNL1A4) were identified in families with chromosome 19-linked FHM. The infantile epileptic syndrome resembles to two other dominantly inherited benign epilepsies occurring in the first year of life, benign familial neonatal convulsions (BFNC), assigned to chromosomes 20q13.2 and 8q, and benign infantile familial convulsions (BIFC), as yet unlinked. METHODS: Linkage analysis was performed for the known locations of FHM and BFNC. The question whether the two conditions in this family can be caused by a single gene defect was addressed by additional linkage analysis. RESULTS: We excluded linkage of the infantile convulsions to markers on chromosome 20q13.2, 8q, or 19p13. This indicates the existence of a third locus for benign familial convulsions in the first year of life. Linkage of FHM to these markers was not formally excluded but seems very unlikely. Statistical analysis of whether, in this family, both conditions are caused by a single gene defect was inconclusive. CONCLUSIONS: We describe a "benign familial infantile epileptic syndrome" with attacks of FHM at a later age. Further genetic studies in this family may help to unravel the genetic basis of epilepsy or migraine or both.

Age of Onset↗
PubMed1997

The course of benign partial epilepsy of childhood with centrotemporal spikes: a meta-analysis.

We performed a meta-analysis of studies on benign epilepsy of childhood with centrotemporal spikes (BECT) to ascertain whether clinical characteristics and outcome can be stated unequivocally. Using the Index Medicus and Medline CD+, we identified 525 publications. After applying the criteria of the International League against Epilepsy (ILAE) for BECT, 32 publications on 2,561 patients remained. After correction for inclusion bias and multiple publications on the same patient groups, 13 cohorts, comprising a total of 794 patients, were included. The aggregate proportional remission was 0.977; hence, no factors influencing outcome could be identified. Age at onset ranged from 3 months to 14 years, age at last seizure ranged from 3 to 18 years. A Kurtzke survival analysis of proportions of children in remission by age was performed; at an older age, the proportion of patients in remission was 0.9997. Publications had highly heterogeneous methodologies and population characteristics; we conclude that current knowledge on BECT has been determined mainly by retrospective studies of biased cohorts, and that the uniformity per se of BECT as an epileptic syndrome may be, at least in part, a result of selection bias. We conclude that early prediction of seizure outcome in a new patient with BECT can not be given with certainty. Prospective, population-based studies are needed to delineate the clinical and EEG characteristics of this syndrome.

Action Potentials↗
PubMed1997

The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients.

OBJECTIVES: To further define the clinical spectrum of the disease for pediatric and metabolic specialists, and to suggest that the general pediatrician and pediatric neurologist consider succinic semialdehyde dehydrogenase (SSADH) deficiency in the differential diagnosis of patients with (idiopathic) mental retardation and emphasize the need for accurate, quantitative organic acid analysis in such patients. PATIENTS: The clinical features of 23 patients (20 families) with SSADH deficiency (4-hydroxybutyric acid-uria) are presented. The age at diagnosis ranged from 3 months to 25 years in the 11 male and 12 female patients; consanguinity was noted in 39% of families. OUTCOME MEASUREMENTS: The following abnormalities were observed (frequency in 23 patients): motor delay, including fine-motor skills, 78%; language delay, 78%; hypotonia, 74%; mental delay, 74%; seizures, 48%; decreased or absent reflexes, 39%; ataxia, 30%; behavioral problems, 30%; hyperkinesis, 30%; neonatal problems, 26%; and electroencephalographic abnormalities, 26%. Associated findings included psychoses, cranial magnetic resonance or computed tomographic abnormalities, and ocular problems in 22% or less of patients. Therapy with vigabatrin proved beneficial to varying degrees in 35% of the patients. Normal early development was noted in 30% of patients. CONCLUSIONS: Our data imply that two groups of patients with SSADH deficiency exist, differentiated by the course of early development. Our recommendation would be that accurate, quantitative organic acid analysis in an appropriate specialist laboratory be requested for any patients presenting with two or more features of mental, motor, or language delay and hypotonia of unknown cause. Such analyses are the only definitive way to diagnose SSADH deficiency; the diagnosis can be confirmed by determination of enzyme activity in white cells from whole blood. We think that increased use of organic acid determination will lead to increased diagnosis of SSADH deficiency and a more accurate representation of disease frequency. As additional patients are identified, we should have a better understanding of both the metabolic and clinical profiles of SSADH deficiency.

Adolescent↗
PubMed1996

Angelman syndrome in adulthood.

We studied the clinical and EEG-findings in 28 adult patients (aged 20-53 years) with Angelman syndrome (AS). Twenty-three showed a maternal chromosome 15q11-13 deletion; in 5, the diagnosis was based on a combination of typical clinical findings. Compared to the clinical manifestations present in childhood, "coarsening" of facial traits (100%), thoracic scoliosis (71%), and being wheelchair-bound (39%) were found more frequently. Paroxysms of laughter were still observed in adulthood (79%), but less frequently than in childhood. Most adult patients could feed themselves, but needed help with many daily activities. The majority (82%) had epileptic seizures. Abnormal EEG-activity consisting of 2-3/s rhythmic triphasic waves of high amplitude with a maximum over the frontal regions, which has been identified in many AS children, was found in 67% of these adult patients.

Adult↗
PubMed1996

Parent-completed scales for measuring seizure severity and severity of side-effects of antiepileptic drugs in childhood epilepsy: development and psychometric analysis.

We have developed two outcome measures for childhood epilepsy: a seizure severity (SS) scale and a side-effects (SE) scale. Both scales have been designed for completion by parents. The scales were tested in two pilot phases and the results of this stepwise analysis are described here. The final scales' psychometric properties were assessed in a group of 80 children with active epilepsy, representative of the population at whom the scales were aimed: children with chronic epilepsy, aged 4-16 years, including all seizure types and epilepsies, as well as children with neurological comorbidity. The SS scale and SE scale showed good internal consistency and test-retest stability. Although there was a significant positive correlation between the SS scale and the SE scale, this was low, indicating that the scales measure a different clinical trait. The SE scale consisted of two subscales: a Toxic subscale, measuring the severity of dose-related side-effects, and a Chronic subscale, measuring the severity of long-term behavioural and cognitive side-effects. These subscales for side-effects showed a high correlation and can be used as a joint scale. These scales have the potential to improve outcome assessment in childhood epilepsy and they can be used to assess important aspects of quality of life in this population.

Adolescent↗
PubMed1996

The outcome of absence epilepsy: a meta-analysis.

We performed a meta-analysis of studies on absence epilepsy (AE) to ascertain whether the outcome of this well-defined type of epilepsy can be stated unequivocally. Using the Index Medicus and Medline CD+, we identified 1,619 publications. After applying the criteria of the International League against Epilepsy (ILAE) for AE, 26 publications on 23 study cohorts with a total of 2,303 patients were included. Remission rates ranged from 0.21 to 0.89; they differed substantially due to heterogeneity between the studies in inclusion criteria, methods, follow-up length, and outcome definitions. One half of the patients developed generalized tonic-clonic seizures (TCS) in the course of the disease. The proportion seizure free was 0.78 for patients with absence seizures (AS) only, and 0.35 for those who developed TCS. The outcome of AE may be worse than previously stated due to the considerable proportion of patients developing TCS in the course of their disease. Early prediction of outcome in patients who present with AS cannot be provided with certainty.

Adolescent↗
PubMed1995

Allogeneic bone marrow transplantation for lysosomal storage diseases. The European Group for Bone Marrow Transplantation.

Patients with lysosomal storage disorders have visceral, skeletal, and neurological abnormalities and a limited life expectancy. Bone marrow transplantation has been used to correct the metabolic defects and leads to metabolic improvements in most patients. However, the long-term effect of such therapy is uncertain. We analysed the data from 63 patients transplanted for lysosomal storage diseases. The transplant-related mortality was 10% if an HLA-identical sibling marrow donor was available (n = 40) and 20-25% if mismatched tissue was used. Data on the effect of bone marrow transplantation on biochemical and clinical disease variables were available in 29 of the 63. 28 had a follow-up duration of 1.0-10.2 years; 1 patient died of disease progression in the first year after stable engraftment. 13 patients who had severe neurological symptoms at the time of transplantation showed disease progression. Engraftment of bone marrow in 5 patients with non-neuronopathic Gaucher's disease led to complete disappearance of symptoms. 11 patients had skeletal symptoms because of various mucopolysaccharidoses (MPSs). There was stabilisation of the skeletal lesions during the observation period of 1.4-6.4 years, but none of the patients showed significant regression of the skeletal symptoms. The visceral features (hepatosplenomegaly, cardiac hypertrophy, and upper airway obstruction) in these patients abated after transplantation. We could not evaluate the biochemical and clinical variables in 34 patients because of graft rejection, transplant-related mortality, or follow-up of less than 1 year. There were significant beneficial effects of bone marrow transplantation in patients with non-neuronopathic Gaucher's disease. Stabilisation of disease was observed in patients with MPS-I and MPS-II; this potential benefit needs to be confirmed by longer follow-up. Bone marrow transplantation was not effective if severe neurological symptoms were already present at the time of transplantation.

Adolescent↗
PubMed1995

Clinical profile of Angelman syndrome at different ages.

We describe 47 patients with Angelman syndrome (AS) from Belgium and the Netherlands, including the anamnestic data, the clinical and the behavioral attributes at different ages. The clinical picture of AS is most distinct between the ages of 2-16 years. Most patients of this age group show at least 8 of the major characteristics (bursts of laughter, happy disposition, hyperactive behaviour, microcephaly, brachycephaly, macrostomia, tongue protrusion, mandibular prognathism, widely spaced teeth, stiff and puppetlike movements, typical stature, wide based gait) beside the mental retardation and (almost) absence of speech, which is a universal trait. The diagnosis in infants is based on only a limited number of clinical characteristics or on anamnestic data. However, if these occur in combination, they are indicative of AS. In older patients, the diagnosis may be hampered in part because of the changing behavioral characteristics and the decreasing frequency of fits. Other manifestations, such as scoliosis, may become more pronounced with age.

Adolescent↗
PubMed1995

Early onset facioscapulohumeral muscular dystrophy.

We report 10 patients (5 familial, 5 sporadic) with facioscapulohumeral muscular dystrophy (FSHD) with onset of facial and shoulder girdle weakness in early infancy. They showed the same broad range of clinical signs and symptoms as can be seen normally in FSHD. In 7 patients Southern blotting with p13E-11 was performed which showed an abnormal EcoRI fragment (13-22 kb) in 6 of them. We conclude that early onset FSHD does not differ from regular FSHD clinically or genetically. However, the precise mechanisms involved in the extensive clinical variability of the disease are still unknown.

Adolescent↗
PubMed1995

On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy.

We have performed retinal fluorescein angiography and audiometry in 32 familial and 7 sporadic cases of facioscapulohumeral muscular dystrophy. A mild to moderate retinal vasculopathy, consisting of retinal teleangiectasis and microaneurysms, was present in 18 of 37 evaluable angiograms (49%); 5 patients had minimal changes and 14 angiograms (38%) were normal. High frequency hearing loss was found in 25 (64%) out of 39 patients. Retinal changes were absent in 5 of 18 families (6 cases examined), and after correction for age and sex, hearing function was normal in 5 of 19 families (7 cases examined). Age and severity of the myopathy did not have a clear relationship with the retinal vasculopathy or the hearing loss. There were no differences between families in which the myopathy was linked to chromosome 4q35 and families in which linkage could not be proven. Minimal retinal vascular changes and high tone hearing loss can be observed occasionally in the normal population. Therefore, although retinal vasculopathy and hearing loss are part of the clinical picture of FSHD, these signs cannot be accepted as decisive criteria for FSHD in clinically equivocal cases.

Adult↗