Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

BACKGROUND: Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been published but an overview of phenotype, genotype and phenotype--genotype correlation has been lacking. METHODS: We performed a retrospective study of clinical, biochemical and molecular genetic data of 101 males with X-linked creatine transporter deficiency from 85 families with a pathogenic mutation in the creatine transporter gene (SLC6A8). RESULTS AND CONCLUSIONS: Most patients developed moderate to severe intellectual disability; mild intellectual disability was rare in adult patients. Speech language development was especially delayed but almost a third of the patients were able to speak in sentences. Besides behavioural problems and seizures, mild to moderate motor dysfunction, including extrapyramidal movement abnormalities, and gastrointestinal problems were frequent clinical features. Urinary creatine to creatinine ratio proved to be a reliable screening method besides MR spectroscopy, molecular genetic testing and creatine uptake studies, allowing definition of diagnostic guidelines. A third of patients had a de novo mutation in the SLC6A8 gene. Mothers with an affected son with a de novo mutation should be counselled about a recurrence risk in further pregnancies due to the possibility of low level somatic or germline mosaicism. Missense mutations with residual activity might be associated with a milder phenotype and large deletions extending beyond the 3' end of the SLC6A8 gene with a more severe phenotype. Evaluation of the biochemical phenotype revealed unexpected high creatine levels in cerebrospinal fluid suggesting that the brain is able to synthesise creatine and that the cerebral creatine deficiency is caused by a defect in the reuptake of creatine within the neurones.

[Maternal vitamin B12 deficiency: cause for neurological symptoms in infancy]. / Mütterlicher Vitamin-B12-Mangel: Ursache neurologischer Symptomatik im Säuglingsalter.

BACKGROUND: Symptoms of Vitamin B (12) deficiency in infancy include growth retardation, regression of psychomotor development, muscular hypotonia and brain atrophy. Besides an inappropriate vegetarian diet of the infants, a vegan diet or a pernicious anaemia of the mother may lead to an insufficient vitamin B (12) supply of the child. PATIENTS AND METHODS: We report here the neurological symptoms of 4 fully breast-fed infants from mothers on vegan diet or with pernicious anaemia. DISCUSSION AND CONCLUSION: Vitamin B (12) deficiency can easily be diagnosed by detection of methylmalonic acid when measuring the organic acids in urine. Vitamin B (12) deficiency should be avoided or diagnosed as early as possible since a supplementation of mother and child can prevent neurological symptoms of the baby. Furthermore, the neurological symptoms of the infant with manifest vitamin B (12) deficiency are (partially) reversible.

[Repeated suicide attempts by children and adolescents--results of a retrospective study]. / Wiederholungen von Suizidversuchen durch Kinder und Jugendliche--Ergebnisse einer retrospektiven Studie.

Children and adolescents who had attempted suicide once are at higher risk for further suicide attempts. In order to better identify those likely to make a further suicide attempt, they were compared at the time of their first suicide attempt with those who had only attempted suicide once. The details of all children and adolescents who had attempted suicide and been treated as inpatients or outpatients in the University Hospital in Göttingen, Germany, over a 10-year period were collected by file-analysis. Sociodemographic characteristics, stresses that preceded the suicide attempts and the chosen methods of attempted suicide were ascertained. 55 male und 116 female subjects had attempted suicide once, 17 male and 79 female subjects had attempted suicide more than once. Those with repeated suicide attempts were younger at the time of their first suicide attempt at 14 years and eight months, than those who did not make a repeat attempt, at 15 years and 7 months. Male repeaters more often experienced conflicts with their parents. Female repeaters were suffering more from emotional or chronic physical diseases and more often drank alcohol in connection with their first suicide attempt. Paediatricians, who are often the first to be confronted with suicide attempts by young people, should work towards providing psychotherapeutic support especially for children and younger adolescents with the particular stresses described.

[Comparison of suicide attempts by male and female adolescents. Results of a 10-year patient population of a child and adolescent psychiatry clinic]. / Suizidversuche durch männliche und weibliche Jugendliche im Vergleich. Ergebnisse einer 10-Jahres-Inanspruchnahmepopulation einer Klinik für Kinder- und Jugendpsychiatrie.

OBJECTIVE: This study examines the way in which suicide attempts differ between male and female adolescents. METHODS: The characteristics of 173 female and 62 male adolescents who were treated at a clinic for child and adolescent psychiatry over a period of 10 years were investigated. RESULTS: Suicide attempts by adolescents in the patient population did not decrease in accordance with suicides in the same age-group among the general population. Male adolescents more often attempted suicide in a place where they were less likely to be discovered, but did not use a "harsher" method than female adolescents. The diagnosis rendered according to ICD-10 in 36% of cases was not always typical for the respective sex. CONCLUSIONS: The ways in which adolescents attempt suicide have clearly changed over the past years. Diagnoses that are untypical for the respective sex may represent a risk factor.