ABSTRACT
The 22q13 deletion syndrome is characterised by intellectual disability (ID), delayed or absent speech, autistic-like behaviour and minor, nonspecific dysmorphic features. The deletion of the SHANK3 gene is thought to be responsible for these features. In this study, the clinical data of 7 patients with the 22q13 deletion syndrome are presented, obtained by clinical genetic examination, direct behavioural observation and by interview of family members and/or caregivers, complemented by behavioural questionnaires. The specific focus was on behaviour, psychopathology and the level of functioning during life course in order to determine common features that might contribute to the delineation of the syndrome. Major findings were a high incidence of psychiatric disorders, more in particular bipolar disorder (BPD) and attention deficit hyperactivity disorder (ADHD), and a sudden deterioration after acute events, in addition to a progressive loss of skills over years. Therefore, a deletion of SHANK3 may result in a dysfunctional nervous system, more susceptible to developmental problems and psychiatric disorders on the one hand, less able to recuperate after psychiatric and somatic events, and more vulnerable to degeneration at long term on the other hand. These results are exploratory and need to be confirmed in a larger sample.
ABSTRACT
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.
Subject(s)
Abnormalities, Multiple/genetics , Face/abnormalities , Intellectual Disability/genetics , Somatotypes/genetics , Adult , Female , Hip Dislocation, Congenital/genetics , Humans , Phenotype , Psychomotor Disorders/genetics , Scoliosis/geneticsABSTRACT
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.
Subject(s)
Facial Bones/abnormalities , Intellectual Disability/genetics , Skull/abnormalities , Adult , Alopecia/genetics , Humans , Male , Muscles/pathology , Patella/abnormalities , SyndromeABSTRACT
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.
Subject(s)
Antipsychotic Agents/therapeutic use , Intellectual Disability/psychology , Isoxazoles/therapeutic use , Mental Disorders/drug therapy , Piperidines/therapeutic use , Adolescent , Adult , Antipsychotic Agents/administration & dosage , Antipsychotic Agents/adverse effects , Basal Ganglia Diseases/chemically induced , Basal Ganglia Diseases/diagnosis , Basal Ganglia Diseases/drug therapy , Double-Blind Method , Drug Therapy, Combination , Female , Humans , Intellectual Disability/complications , Isoxazoles/administration & dosage , Isoxazoles/adverse effects , Male , Mental Disorders/complications , Middle Aged , Piperidines/administration & dosage , Piperidines/adverse effects , Placebos , RisperidoneABSTRACT
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.
Subject(s)
Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 5 , Chromosomes, Human, Pair 7 , Intellectual Disability/genetics , Muscle Hypotonia/genetics , Obesity/genetics , Translocation, Genetic , Adolescent , Female , Genes, Recessive , Humans , Incisor/abnormalities , Mutation , SyndromeABSTRACT
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.
Subject(s)
Brain/pathology , Cognition Disorders/diagnosis , Magnetic Resonance Imaging , Multiple Sclerosis/complications , Adult , Cognition Disorders/etiology , Female , Humans , Male , Middle Aged , Neuropsychological TestsABSTRACT
In this report we describe two adult male patients with a chromosomal rearrangement involving the short arm of chromosome 18 and an acrocentric chromosome. In addition to moderate mental retardation and verbal disability they presented dysmorphic stigmata similar to those found in the Noonan syndrome.
Subject(s)
Chromosomes, Human, Pair 18 , Intellectual Disability/genetics , Translocation, Genetic , Adult , Chromosomes, Human, Pair 13 , Humans , Karyotyping , Male , PhenotypeABSTRACT
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.
Subject(s)
Cognition Disorders/diagnosis , Disability Evaluation , Multiple Sclerosis/psychology , Neurocognitive Disorders/diagnosis , Wechsler Scales , Adult , Female , Humans , Male , Middle AgedABSTRACT
Triploid-diploid mosaicism in fibroblasts of a deeply mentally retarded 21-year-old female is reported. The relevant findings in 2n/3n mosaicism are reviewed and discussed.
