. Long-term prognosis in children with recurrent abdominal pain. The present study is a follow-up of 34 cases admitted to a paediatric department with recurrent abdominal pain (RAP) in 1942 and 1943. 45 persons without a history of RAP were selected at random and included as controls. Using a questionnaire, there was a higher incidence of gastrointestinal symptoms among persons with a history of RAP during childhood than among controls (P < 0 05). 18 of the original 34 cases who still had symptoms were re-examined; 11 had a clinical picture consistent with a diagnosis of irritable colon, 5 had a picture compatible with both irritable colon and peptic ulcer/gastritis, and 2 had duodenal ulcer.Abdominal pains occurred no more frequentlyamong children ofparents who had had RAP during childhood than among children of parents without such a history. However, there was a higher incidence of abdominal pain among children of parents who were complaining of abdominal discomfort at the time of the investigation than among children whose parents were without such symptoms (P < 0 005).It has been generally held that the prognosis for children with recurrent abdominal pain (RAP) is good, though this point of view is not supported by the few published follow-up studies. Apley (1959) examined 30 persons who had been in hospital as children with RAP 8-20 years earlier. The patients had received no or inadequate treatment. 9 were free from symptoms. In 9 cases the episodes of abdominal pain had ceased only to be replaced by other symptoms, especially headache. In 12 cases abdominal pains persisted, mostly accompanied by 'nervous' complaints. Among 18 controls, one had severe headache, 4 had occasional slight headache, 3 had occasional abdominal discomfort, and one suffered from nervousness.Apley and Hale (1973) reported a follow-up of 30 persons 10-14 years after they had been referred to a children's hospital on account of RAP and treated with reassurance and explanation. The results were similar to those of the first study except for the following points: the children who responded to treatment recovered more quickly than those described in the first study; relapse did not occur in treated patients; and in the treated group fewer nonabdominal disorders developed.

Research on somatisation or functional disorders, characterised by the subjective report of physical symptoms in the absence of clear physical pathology, in young children is limited. This study investigates the distribution, types and co-occurrence of parent-reported functional somatic symptoms (FSS) and their impairment in a population-based sample of Danish 5-7-year-old children. Data were obtained from a 5-7-year follow-up of the Copenhagen Child Cohort 2000. The entire study population included 3,000 randomly sampled children from the cohort. Among these FSS measures were obtained for 1,327 children. The newly introduced parent interview, the soma assessment interview, was used to assess the child's FSS. Impairing symptoms were defined as FSS that caused substantial discomfort, impairment of everyday life, absence from day-care or school and/or help-seeking in the health care system. The 1-year prevalence of any FSS was 23.2% (N = 308) and higher in girls than boys (27.6 vs. 18.8%, P < 0.0001). Impairing FSS were found in 4.4% (N = 58). Pain complaints, i.e. limb pain, headache and abdominal pain, were the most frequently reported FSS. Among the 308 children with FSS, 66 (21.4%) presented with two or more of these functional pain complaints, while 15 (4.9%) had all three types. The findings indicate that FSS are common health complaints in 5-7-year-old children. A subgroup with impairing FSS with a likely need of clinical intervention was identified. This suggests that a somatisation pattern may start early in life and call for future studies to include associated impairment in the investigation of childhood FSS.

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The molecular genetics of the autosomal recessive disorder pycnodysostosis was studied in five independent families from an outbred Caucasian population. We found two new mutations and one recently described mutation in the cathepsin K gene by sequencing DNA from eight patients with pycnodysostosis: a one base transition in exon 8, c926T > C, causing a single amino acid substitution leucine ® proline, L309P; A 3' splice site mutation in intron 2, c121-1G > A, causing deletion of all exon 3, 41V-81Mdel; and the exon 3 missense mutation c236G > A leading to residue G79E. In three of the families patients were homozygous for 926T > C. In the remaining two families patients were heterozygous for 926T > C and 121-1G > A in one case, and for 926T > C and 236G > A in the other case. Assays using genomic DNA were developed for all three mutations. We tested 150 healthy control persons and observed the mutation frequencies: 0 to 300 for 121-1G > A and 236G > A and 1 to 150 for 926T > C. One patient from each family was haplotyped with eight microsatellite markers surrounding the cathepsin K gene on chromosome 1q21. A very rare, P = 1.8 ؋ 10 -6 to P = 0.0004, and highly preserved area around the presumed disease locus was common to all the patients. This haplotype was found on seven chromosomes identical by state, IBS, out of the possible eight carrying the 926T > C mutation. Founder effect, locus homogeneity, and allele heterogeneity regarding pycnodysostosis within this population are discussed. Finally, the first pregnancy and delivery described in a patient with pycnodysostosis is reported.