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Biomedical subjects

J Geutjens

Publications and source records attributed to J Geutjens.

10 recordsLinked to original sources

Ectomorphic habitus, severe mental retardation and characteristic face: a new MCA/MR syndrome?

Here we report on 2 mentally retarded sisters with clinical signs and symptoms not seen in a previously delineated MCA/MR syndrome, i.e., normal pre- and perinatal history, severe mental retardation with severe delay in psychomotor development and without development of primary motor abilities and speech, characteristic face with maxillary hypoplasia, large mouth with down-turned corners, short philtrum and everted lower lip, associated with a remarkable ectomorphic habitus.

Abnormalities, Multiple↗

Risperidone as add-on therapy in behavioural disturbances in mental retardation: a double-blind placebo-controlled cross-over study.

A double-blind placebo-controlled cross-over trial was carried out to evaluate the efficacy and safety of the combined serotonin-dopamine antagonist risperidone in mentally retarded patients with persistent behavioural disturbances. After an observation period of 1 week, risperidone 4-12 mg or placebo was administered during 3 weeks as add-on treatment to the existing medication, followed by a 1-week single-blind placebo wash-out, and another 3 weeks of double-blind treatment with the cross-over medication. Thirty-seven patients participated in the trials; 30 completed the study. Risperidone was significantly superior to placebo in its effect on the Aberrant Behaviour Checklist and the Clinical Global Impression. The Extrapyramidal Symptom Rating Scale did not show any differences between risperidone and placebo. Two patients experienced hypotension at the start of the risperidone administration. Sedation and drowsiness were the most frequently reported treatment-emergent adverse events. The results of this trial warrant further investigation into the therapeutic assets of risperidone in this indication, as add-on therapy and as monotherapy.

Adolescent↗

Profound mental retardation, characteristic facies with midfacial hypoplasia and premature frontotemporal balding, muscular hypotrophy, and small patellae in two unrelated male patients.

Two profoundly mentally retarded, unrelated males are reported with an unidentified multiple congenital anomaly/mental retardation syndrome, including early balding, patella luxations, small hands and feet, and hypogonadism, similar to a previous publication in this journal of a severely mentally retarded male patient with dysmorphic features.

Adult↗

Cohen syndrome and de novo reciprocal translocation t(5;7)(q33.1;p15.1).

Here we report on a de novo apparently balanced reciprocal 5q;7p translocation in a 15-year-old girl with apparent Cohen syndrome characterized by hypotonia, obesity, multiple congenital anomalies, and mental retardation. This case may indicate that the gene for Cohen syndrome is at 5q33.1 or 7p15.1.

Abnormalities, Multiple↗

Magnetic resonance imaging and cognitive functioning in multiple sclerosis.

The relationship between cognitive impairment in multiple sclerosis and brain lesions seen on magnetic resonance imaging (MRI) was studied. Three groups of 11 patients with multiple sclerosis, matched for the variables of disability, duration of illness, age and sex, were included. On the basis of neuropsychological testing, the groups were seen to differ in their level of cognitive impairment. The first group showed no cognitive impairment, the second group a moderate, and the third group a serious cognitive impairment. These differences between the groups were reflected by MRI, which revealed more abnormalities in the groups with cognitive impairment compared with the group with normal cognitive function. However, by MRI it was not possible to distinguish between the groups with moderate and that with serious cognitive impairment.

Adult↗

Use of rating scales to reflect cognitive and mental functioning in multiple sclerosis.

46 patients with clinically definite multiple sclerosis were studied to compare intellectual function (Wechsler Adult Intelligence Scale) with other clinical expressions of the disease. Estimated premorbid I.Q. was compared to actual I.Q. 35% had I.Q. decrease of 0-14 points (clinically insignificant); 56% had mild to moderate I.Q. decrease of 15-29 points and 8% had more serious I.Q. decrease of 30 or more points. Decrease in I.Q. did not correlate with any other neurological deficit.

Adult↗