SGCZ mutations are unlikely to be associated with myoclonus dystonia.

BACKGROUND: Myoclonus dystonia syndrome (MDS) is a hyperkinetic movement disorder caused, in a proportion of cases, by mutations of the maternally imprinted epsilon-sarcoglycan gene (SGCE). SGCE mutation rates vary between cohorts, suggesting genetic heterogeneity. E- and ζ-sarcoglycan are both expressed in brain tissue. In this study we tested whether zeta-sarcoglycan gene (SGCZ) mutations also contribute to this disorder. METHODS: Patients with clinically suspected MDS and no SGCE mutation were recruited and classified, according to previously published criteria, as to their likelihood of the movement disorder. All SGCZ exons and intron/exon boundaries were screened by direct sequencing. RESULTS: Fifty-four SGCE mutation-negative patients were recruited from the UK and the Netherlands. Subdivided according to the likelihood of the movement disorder resulted in 17 'definite', 16 'probable' and 21 'possible' cases. No pathogenic SGCZ mutations were identified. CONCLUSIONS: SGCZ mutations are unlikely to contribute to the genetic heterogeneity in MDS.

Signs and symptoms of illness in early infancy: associations with sudden infant death.

AIMS: to describe a pattern of illness in "normal" infants, and to assess to what extent this may differ in infants who die suddenly and unexpectedly. METHODS: All infants are on the CONI (Care of the Next Infant) scheme in which mothers record symptoms and signs of illness prospectively, on a daily basis from birth to approximately age 6 months. The symptoms of infants who die suddenly and unexpectedly are compared with those of a consecutive sample of infants who survive. Twenty one babies died suddenly, of whom 11 were cot deaths and 10 had "known causes" of death. Ninety eight infants who survived were used as consecutive controls. Prospective daily records of the presence or absence of 26 signs and symptoms were kept by all of the mothers, commencing at birth and lasting an average of 176 days in survivors; 84 days in SIDS; and 93 days in infants who died of known causes. RESULTS: Standardised for age and the time of year, on any given day, the mothers of the SIDS infants were over eight times more likely to record their child as being pale, six times more likely to be sweating, and twice as likely to be irritable. Other signs and symptoms which were three times more likely to be recorded were sore gums, dry stools, and coldness. Infants who died of known causes generally had fewer symptoms. CONCLUSIONS: Cot death infants have a range of symptoms which appear to be of a general nature, and not related to any one system. Symptoms are seen throughout life and not related to the time of death.

Patterns of symptoms in siblings of sudden infant death syndrome infants.

Longitudinal day-to-day recordings of symptoms in the siblings of Sudden Infant Death Syndrome (SIDS) infant show a wide variety of symptoms varying with season and days of years. Implications are discussed.

Recurrence of unexpected infant death.

Families which had experienced two or more unexpected infant deaths were the subject of detailed confidential enquiries, including necropsy examination. Cases were derived from two main sources: first, deaths occurring during a nationwide programme of support for families with a subsequent baby (8 families) plus 2 families from a series of confidential enquiries in Sheffield, and second, direct referrals from paediatricians (17 families). Fifty-seven deaths were studied. Twenty-four families had experienced 2 and three had experienced 3 deaths; 11 deaths (19%) were found to be adequately explained by history or post-mortem findings; 7 (12%) were probably accidental; 31 (55%) were most probably due to an action by one of the parents (filicide); only 5 (9%) were considered to be true or idiopathic sudden infant death syndrome; in 3 (5%) cases there was insufficient information to draw a conclusion. Five (18%) of the families lived in circumstances of serious social deprivation. A history of psychiatric illness was present in one or both parents in 18 (67%) of the families.

Apnoea monitors compared with weighing scales for siblings after cot death.

A randomised control trial was carried out on support measures given to parents with a subsequent child after previously suffering a cot death. Apnoea monitors were used in one group and weighing scales in the other. General support measures given to both groups included the keeping of symptom charts and weekly visits by health visitors. Many alarms occurred which were presumed to be false. Eleven per cent fewer symptoms were reported by parents of children on monitors than parents of children being weighed daily. Both systems were acceptable and gave parents confidence. Sixty per cent of parents were reluctant to give up using the monitor compared with 26% of parents using scales. Virtually all parents commented on the great value of the weekly home visit of the health visitor and the symptom diary.