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Biomedical subjects

Christopher Gillberg

Publications and source records attributed to Christopher Gillberg.

58 records · Page 4Linked to original sources

Mobius sequence--a Swedish multidiscipline study.

Mobius sequence/syndrome is a rare disorder characterized by congenital palsy of the 6th and 7th cranial nerves. Other cranial nerves may be affected, skeletal and orofacial anomalies and mental retardation occur. The aims were to determine the frequency of associated clinical characteristics and to identify any pregnancy or environmental factors in patients with Mobius sequence. A prospective study of 25 Swedes with apparent involvement of the 6th and 7th cranial nerves was performed and 25 patients, 1 month to 55 years old, were examined. Obvious associated systemic anomalies observed included: limb malformations (10), Poland anomaly (2), hypodontia (7), microglossia (6), cleft palate (4), hearing impairment (5) and external ear malformation (1). Pronounced functional abnormalities were observed involving facial expression (16), speech (13), eating and swallowing (12) and difficulty in sucking in infancy (11). Six patients had an autistic syndrome, one an autistic-like condition, and mental retardation was found in all these patients. No common aetiological cause was found but their mothers' pregnancy histories revealed a history of benzodiazepines (1), bleeding during pregnancy (8), spontaneous abortion (7) and chorion villus sampling in the second month of pregnancy (1). In conclusion, many patients had multiple problems with eating and communication resulting from facial palsy, cleft palate and tongue anomalies. Autism and mental retardation was diagnosed in one-third of the patients. Awareness of the wide spectrum of manifestations in Mobius sequence will assist in identification of the associated malformations and functional problems that are often seen and result in better care of the children.

Abducens Nerve Diseases↗

Temperament and character in adults with Asperger syndrome.

To study the personality characteristics of adults with Asperger syndrome, and investigate the value of self-rating personality inventories, we administered the Temperament and Character Inventory (TCI) to 31 outpatients with Asperger syndrome. The TCI is a self-rating personality inventory that has been validated in the Swedish general population. The results were compared with age- and sex-matched norm groups. Participants with Asperger syndrome scored significantly higher on harm avoidance and lower on self-directedness and cooperativeness. Reward dependence and novelty seeking tended to be low. They also had significantly higher rarity scores, reflecting idiosyncratic perspectives. The most common temperament configurations were 'obsessional', 'passive-dependent' and'explosive'. Character, reflecting conceptual maturity, was poorly developed in the majority of our subjects. The self-ratings of persons with Asperger syndrome thus indicated anxious personalities with coping difficulties in the areas of social interaction and self-directedness, a picture corresponding to the clinical descriptions of Asperger syndrome.

Adaptation, Psychological↗

Autism associated with conditions characterized by developmental errors in early embryogenesis: a mini review.

Autism is a complex developmental disorder without an established single etiology but with significant contributions from genetic studies, functional research, and neuropsychiatric and neuroradiologic investigations. The purpose of this paper is to review the findings in five studies involving individuals manifesting the characteristic findings of autism spectrum disorder associated with malformations and dysfunctions known to result from early embryogenic defects. These investigations include two associated with teratogens (thalidomide embryopathy, Mobius sequence with misoprostol) and three (most Mobius sequence cases, CHARGE association, Goldenhar syndrome) with no known etiology. These studies suggest that early embryonic development errors often involving cranial nerve palsies, internal and external ear malformations, ophthalmologic anomalies, and a variety of systemic malformations may be associated with autism spectrum disorders statistically more frequently than expected in a normal population. Although the exact time of developmental insult for each condition cannot be identified, the evidence is that it may occur as early as week 4 to 6+ of embryogenesis.

Abnormalities, Multiple↗