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Biomedical subjects

W F Arts

Publications and source records attributed to W F Arts.

At least 37 records · Page 2Linked to original sources
PubMed1996

Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood.

Linkage analysis is described in a family with X-linked mental retardation, ataxia, weakness, floppiness, delayed motor development, absence of deep tendon reflexes, hearing impairment and loss of vision (MIM no. 301835). The disease has a fatal course due to the susceptibility of the patients to infections, especially of the respiratory tract. Clinical signs indicate impairment of the posterior columns, peripheral motor and sensory neurons and the second and eighth cranial nerves and/or their nuclei. The involvement of the posterior columns of the spinal cord is further suggested by the almost complete absence of myelinated fibers therein. We localized the responsible gene(s) to Xq21.33-q24 between DXS1231 and DXS1001 with a maximum lod score of 6.97. The proteolipid protein gene, which codes for two myelin proteins of the central nervous system and is located in this region, was considered as a candidate gene for this disorder. However, no mutations were found in the protein-coding part of this gene.

Ataxia↗
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

Outcome assessment in epilepsy: available rating scales for adults and methodological issues pertaining to the development of scales for childhood epilepsy.

During the past decade, several scales have been developed to improve the assessment of outcome in epilepsy. These scales were developed for adults and their reliability, validity and usefulness have been established. However, there is also a need for alternative measures of outcome in childhood epilepsy, especially a measure of seizure severity (SS) and measures pertaining to quality of life (QoL). Four of these adult scales are reviewed and compared to examine their applicability in childhood epilepsy. Two important methodological differences between them are discussed: (a) patient self-report vs. physician-based scales and (b) generic vs. disease-specific instruments. QoL in epilepsy is briefly reviewed. Severity of seizures and severity of side-effects are relatively neglected areas of importance to QoL in epilepsy. The existing instruments for adults are not appropriate for children in their present form. Some specific methodological issues, which are relevant for the development of scales for children with epilepsy, are subsequently discussed. New scales pertaining to physical and psychosocial aspects of QoL in childhood epilepsy are being developed. In the near future, data on their reliability, validity and usefulness will become available. A combination of scales focusing on specific aspects of QoL, including SS and severity of adverse effects, and more traditional clinical data may provide a more complete assessment of outcome in childhood epilepsy.

Adult↗
PubMed1995

Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children.

An identical syndrome of cerebral leukoencephalopathy and megalencephaly with infantile onset was discovered in 8 children, including 2 siblings. Neurological findings were initially normal or near normal, despite megalencephaly and magnetic resonance imaging (MRI) evidence of severe white matter affection. Slowly progressive ataxia and spasticity developed, while intellectual functioning was preserved for years after onset of the disorder. MRI characteristics included diffuse abnormality in signal intensity and swelling of the cerebral hemispheral white matter with cyst-like spaces in the frontoparietal and anterior-temporal subcortical areas. MR spectra were relatively mildly abnormal. Screening for inborn errors, especially those that cause either megalencephaly or white matter disease or both was negative. A distinguishing feature of the present disorder is the apparently severe abnormality of the cerebral white matter as demonstrated by MRI, which contrasts with the remarkably slow course of functional deterioration.

Adolescent↗
PubMed1995

Cerebellar and brainstem hypoplasia in a child with a partial monosomy for the short arm of chromosome 5 and partial trisomy for the short arm of chromosome 10.

A child with hypoplasia of the cerebellum and brainstem in association with an unbalanced translocation, resulting in a partial deletion of the short arm of chromosome 5 and a partial trisomy of the short arm of chromosome 10, is described. A balanced translocation was present in his mother and maternal grandmother. A maternal uncle had died at the age of 4 years with the same clinical picture. After reviewing the literature, we conclude that the monosomy 5p is the most likely cause for this malformation. We suggest that the possible existence of chromosomal anomalies should always be considered in the differential diagnosis of hypoplasia of the cerebellum and/or brainstem.

Brain Stem↗
PubMed1993

X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course.

An X-linked recessive disease with, in almost all patients, a fatal course in early childhood, occurring in a five-generation family is described. The 12 affected boys had early-onset floppiness, ataxia, liability to infections especially of the upper respiratory tract, deafness, and later, a flaccid tetraplegia and areflexia. Eleven boys died before the age of 5 years. One boy is still alive at the age of 12 years, but in addition to the above-mentioned signs, he must be ventilated at night and is nearly blind due to optic atrophy. In the only patient whose central nervous system could be examined at the time of autopsy, an almost complete absence of myelin in the posterior columns of the spinal cord was found. This may be the main pathological substrate for the neurological findings. No biochemical or immunological defects were detected. The family also counted 16 healthy male siblings and 13 definite of 28 possible female carriers. Some carriers developed a hearing impairment in early adulthood. As far as is known now, this disease has not been described before.

Ataxia↗
PubMed1993

Significance of centro-temporal spikes on the EEG.

In a prospectively studied group of 43 children with centro-temporal spikes on the EEG, only 26 had the classical epileptic syndrome related to this EEG abnormality. Ten patients never had epileptic manifestations. In the other seven cases two types of epileptiform activity were encountered: in addition to the centro-temporal spikes generalized spike-and-wave complexes or--in other patients--occipital epileptiform phenomena occurred. In these cases the clinical signs and symptoms correlated best with the non-Rolandic EEG abnormalities. Some patients had only a few centro-temporal spikes during the recording of the EEG; in others this epileptiform activity was almost continuously present. This quantitative difference had no clinical correlation. Centro-temporal spikes should probably be looked upon as an (epi)phenomenon of cerebral disfunction with a wide range of clinical and electroencephalographic expressions.

Adolescent↗
PubMed1992

EEG and evoked potentials in a series of 21 patients with lissencephaly type I.

Twenty-one Dutch patients were the subject of an extensive study into lissencephaly type I. One hundred and fourteen EEG's of these patients were studied. The EEG's were compared to 52 EEG's recorded from 21 patients with an atypical cortical dysplasia and to a control group consisting of 882 EEG's recorded from 823 patients for various reasons. The EEG's in the lissencephaly patients showed the following patterns significantly more often: (a) generalized fast activity (8-18/s) with an amplitude higher than 50 microV, (c) sharp- and slow-wave complexes with an amplitude higher than 500 microV, (d) an alternating pattern consisting of bursts of sharp waves alternating with periods of electrocerebral depression. Ninety-five percent of the lissencephaly patients showed pattern (a) or (c) or both compared to only 5% of the patients with an atypical cortical dysplasia and 0.4% in the controls. The SSEP's recorded in ten patients after stimulation of the median nerve were abnormal in all. EEG and evoked potentials appear to be valuable examinations in the (differential) diagnosis of lissencephaly type I.

Cerebral Cortex↗
PubMed1991

Neuroimaging in lissencephaly type I.

The CT scan's of 22 patients with lissencephaly type I, a severe developmental disorder of the cerebral cortex, were studied. In 6 patients a magnetic resonance (MR), scan was also performed. The CT and MR scans of the lissencephaly patients were compared to a control group consisting of 49 patients with a normal CT or MR scan. In lissencephaly the cortical thickness was always larger than 10 mm, as compared to less than 7 mm in the normal situation. In lissencephaly the WSF/DSF index (with/depth of the sylvian fissure) was always larger than 0.29, while in the normal situation less than 0.25.

Adolescent↗
PubMed1991

Epidemiology of lissencephaly type I.

In a cooperative study in The Netherlands 22 patients with lissencephaly type I were collected. In the period 1980-1988, the prevalence of lissencephaly type I in the Netherlands was 11.7 per million births (12.2 for females and 11.0 for males). The 5-year survival rate of patients with a complete or nearly complete agyria (grade 1 or 2) in this study was 54% compared to 91% in patients with a mixture of agyria with pachygyria or complete pachygyria (grade 3 or 4).

Abnormalities, Multiple↗
PubMed1990

Diagnostic features and clinical signs of 21 patients with lissencephaly type 1.

Lissencephaly type I has been described as either the cerebral expression of a complex malformation syndrome such as Miller-Dieker syndrome (MDS), or as isolated lissencephaly sequence (ILS). In a nation-wide study in The Netherlands, of 21 patients with lissecephaly type I, four were found to have MDS and 17 ILS. New clinical aspects were as follows: the mean life-span of the entire group was longer than previously reported; patients with lissencephaly grades 3 or 4 (mixture of agyria and pachygyria, or complete pachygyria) developed seizures later than those with grades 1 and 2 (complete and almost complete agyria); microcephaly was not always present in patients with grades 3 and 4 lissencephaly; and patients with lissencephaly grades 1 and 2 had hardly any psychomotor development, while those with grades 3 and 4 were severely retarded.

Cerebral Cortex↗
PubMed1989

[Current developments in the clinical diagnosis and the biochemical analysis of Leigh's syndrome].

Illustrated by two case histories, a survey is given of the current knowledge about the clinical details, radiologic findings, other diagnostic tools and biochemical mechanisms of Leigh's syndrome. This syndrome can at present be diagnosed during life on the basis of clinical and radiological signs, especially in combination with increased levels of lactate and pyruvate in body fluids. Emphasis is given to the great biochemical heterogeneity of this syndrome.

Brain Diseases, Metabolic↗