Hk Blomquist

Epilepsy in a population of mentally retarded children and adults

All mentally retarded (MR) subjects in a northern Swedish county were assessed for the occurrence of active epilepsy on a prevalence day. Active epilepsy was found in 299 subjects (20.2% of those with MR) corresponding to a crude prevalence rate of 1.2/1000 inhabitants. The age-specific prevalence for 0-9 years was higher for females than for males, while in other age groups it was slightly higher for males or showed no difference between the sexes. Epilepsy and MR were the only disorders in 129 subjects (43.1%). Cerebral palsy was the most common associated disorder and occurred in 100 (33.4%). A presumable etiology for epilepsy and MR was identified in 73.2% and 71.9%, respectively. The presumable etiological factors which caused MR occurred prenatally in 35%, perinatally in 10% and postnatally in 9%. The pathogenetic period was unknown in 31%. In 15%, the etiological events occurred during more than one of the above periods. The presumable causes were responsible for both epilepsy and MR in all except 7 cases. MR individuals with epilepsy were significantly more retarded than those without epilepsy. The first seizure occurred during the neonatal period in 11.6% and before 1 year of age in 27.7%. Generalized tonic-clonic seizures were the most common type and occurred in 204 subjects (68.2%). Seventy-one of these also had partial seizure manifestations. Daily to weekly seizures occurred in 26.8% and 32.0% had been seizure-free for the past year.

Is the prevalence of overweight and obesity declining among 4-year-old Swedish children?

Aim:  To investigate the trend in overweight and obesity prevalence among 4‐year‐old Swedish children.

Fragile X syndrome in mildly mentally retarded children in a northern swedish county. A prevalence study

In an extensive etiological study of an unselected series of mildly mentally retarded children (MMR) (IQ 50–70) born 1959–1970 in a northern Swedish county, 5 of 110 boys (4.5%) and none of 61 girls had a fragile site on the distal end of the X‐chromosome (Fra Xq 28). Consequently fragile X was seen in 2.9% of the total series of 171 children. In a combined series of severe and mild mental retardation, the incidence of the fragile X syndrome was calculated to be 1:3000 in the county of Vasterbotten. Next to trisomy 21 the fragile X syndrome was the most common single identified cause of MMR in boys. A cytogenetic investigation using special cultural conditions and banding techniques should be performed in cases of mental retardation of unclear etiology and in possible female carriers.

Obesity in 4-year-old children more prevalent in girls and in municipalities with a low socioeconomic level

Aim: To provide updated prevalence data of BMI and obesity in 4‐year‐old Swedish children, also exploring socioeconomic differences.

Effect of folic acid treatment in the fragile X syndrome

The effect of folic acid intake on the frequency of fragile X positive cells and some behavioural characteristics were evaluated in 5 boys and 4 adult males with the fragile X syndrome. The expression of fragile X was nullified in 6 and decreased in 3 of the 9 patients. Behavioural and motor ability were considered to have improved in 4 of the 5 boys but not in the 4 adults with fragile X syndrome.

Glycerol kinase deficiency in two brothers with and without clinical manifestations.

We report two brothers with glycerol kinase deficiency (GKD). The older brother had serious clinical symptoms, mental and growth retardation, abnormal skeleton, spontaneous fractures and premature loss of abnormal teeth. He and his mother had low serum phosphate levels. He had elevated serum and urine glycerol levels and GKD was found in cultured fibroblasts. Prenatal diagnosis was performed in the second pregnancy. Glycerol kinase activity was considered normal in a chorionic villus sample of the foetus. After birth, it was found that the boy had elevated serum and urine glycerol levels. Enzymatic analysis in cultured fibroblasts revealed that this boy also had GKD, in spite of having no expression of the disease. Chromosomal analyses in the parents and both boys were normal. Major rearrangements or deletions were not detected in molecular studies of DNA from the two brothers. The hybridisation pattern was normal and no allelic loss was observed.

The role of the Child Health Services in the identification of children with possible Attention Deficit Hyperactivity Disorder/Deficits in Attention, Motor Control and Perception (ADHD/DAMP)

Literature concerning the role of the Child Health Services in the identification of children with possible Attention Deficit Hyperactivity Disorder/Deficits in Attention, Motor Control and Perception (ADHD/DAMP) is summarized in order to establish a background for evaluation, discussion and conclusion.