[The Interdisciplinary Family Consultation in Pediatrics - An Integrative Approach to Complex Burdened Families of Chronically ill Children]. / Die Interdisziplinäre Familienmedizinische Sprechstunde in der Kinderheilkunde ­ Ein integrativer Ansatz für komplex belastete Familien mit einem chronisch kranken Kind.

For families of chronically ill children with a high level of psychosocial stress, it is necessary to involve child and adolescent psychiatric or psychosomatic specialists directly in the pediatric treatment process. For this purpose, a family consultation was set up in the Heidelberg University Pediatrics as part of a model project, which deals with these families in an interdisciplinary and systemic way. It shows that the implementation of the consultation works despite a high organizational effort and is regularly used. The first evaluation results confirm the already described high levels of psychosocial stress in the affected families. They indicate a positive assessment of the consultation and a desire for a permanent offer. First follow-up results indicate a significant decrease in treatment-related concerns, uncertainty and a reduction in treatment-related problems. The lack of a viable funding model poses a challenge for long-term implementation.

Determinants of Plasma Docosahexaenoic Acid Levels and Their Relationship to Neurological and Cognitive Functions in PKU Patients: A Double Blind Randomized Supplementation Study.

Children with phenylketonuria (PKU) follow a protein restricted diet with negligible amounts of docosahexaenoic acid (DHA). Low DHA intakes might explain subtle neurological deficits in PKU. We studied whether a DHA supply modified plasma DHA and neurological and intellectual functioning in PKU. In a double-blind multicentric trial, 109 PKU patients were randomized to DHA doses from 0 to 7 mg/kg&day for six months. Before and after supplementation, we determined plasma fatty acid concentrations, latencies of visually evoked potentials, fine and gross motor behavior, and IQ. Fatty acid desaturase genotypes were also determined. DHA supplementation increased plasma glycerophospholipid DHA proportional to dose by 0.4% DHA per 1 mg intake/kg bodyweight. Functional outcomes were not associated with DHA status before and after intervention and remained unchanged by supplementation. Genotypes were associated with plasma arachidonic acid levels and, if considered together with the levels of the precursor alpha-linolenic acid, also with DHA. Functional outcomes and supplementation effects were not significantly associated with genotype. DHA intakes up to 7 mg/kg did not improve neurological functions in PKU children. Nervous tissues may be less prone to low DHA levels after infancy, or higher doses might be required to impact neurological functions. In situations of minimal dietary DHA, endogenous synthesis of DHA from alpha-linolenic acid could relevantly contribute to DHA status.

Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.

tRNA synthetase deficiencies are a growing group of genetic diseases associated with tissue-specific, mostly neurological, phenotypes. In cattle, cytosolic isoleucyl-tRNA synthetase (IARS) missense mutations cause hereditary weak calf syndrome. Exome sequencing in three unrelated individuals with severe prenatal-onset growth retardation, intellectual disability, and muscular hypotonia revealed biallelic mutations in IARS. Studies in yeast confirmed the pathogenicity of identified mutations. Two of the individuals had infantile hepatopathy with fibrosis and steatosis, leading in one to liver failure in the course of infections. Zinc deficiency was present in all affected individuals and supplementation with zinc showed a beneficial effect on growth in one.