Assessing assistive technology requirements in children with written language disorders. A decision tree to guide counseling.

Children with a written language disorder are sometimes dependent upon help from others for their schoolwork. A computer can be a way to circumvent this difficulty. Various software programs and plug-in peripheral devices are available, some of which specifically target the needs of these young people. There is no consensus, however, with regard to how best to counsel parents and children with regard to these tools. Furthermore, written language disorders and existing technical supports are not always clearly understood. In many cases, healthcare and teaching professionals have only limited knowledge of the potentially specific advantages for patients with written language disorders. A child's full integration into daily activities and school life can be hampered by counseling that was inadequately tailored or by a lack of support in using this equipment. Joint consultations involving both an occupational and a speech therapist have been set up in our department to improve counseling with regard to technical supports. Using our daily practice as a basis, we have developed a decision tree that we see as a necessary tool for helping professionals make the most appropriate practical choices.

Long-term outcome of colon interposition after esophagectomy in children.

BACKGROUND AND OBJECTIVES: Tissues derived from the colon, stomach, and jejunum have been used to replace the esophagus in childhood to cure esophageal atresia or stricture secondary to gastroesophageal reflux or the ingestion of corrosive agents. The outcome in adulthood of colon interposition performed at an early age has yet to be satisfactorily assessed. The aim of this single-center retrospective study was to evaluate the long-term nutritional, digestive, and respiratory outcome of all patients (n = 32) who underwent colon interposition during childhood in our hospital (1970-2001). PATIENTS AND METHODS: Medical records of these subjects were reviewed and their nutritional (weight, height, 24-hour food diary), digestive (questionnaire), and pulmonary function status evaluated. RESULTS: Of the patients, 17 had esophageal atresia (7 males, median age at surgery 11 months, range 0.5-61) and 15 had ingested corrosive substances (10 males, median age at surgery 50 months, range 22-113). Complications occurred less than 1 year postoperatively in 53% and long-term complications (occurring >1 year after surgery) in 84%. Long-term complications were common: digestive symptoms were found in 85% (most frequently observed during the first 5 years of follow-up), abnormal lung function in 7 (58%) of those tested (n = 12), feeding difficulties in 50%, scoliosis in 35%, and nutritional complications in 25%. CONCLUSIONS: Our study showed a high rate of sequelae following esophageal replacement. This highlights the need for multidisciplinary long-term follow-up into adulthood, and research into alternatives to colon interposition as treatment for esophageal strictures.

[Fatal neonatal respiratory distress in Niemann-Pick C2 and prenatal diagnosis with mutations in gene HE1/NPC2]. / Forme respiratoire néonatale létale de la maladie de Niemann-Pick C2 et diagnostic anténatal par l'étude des mutations du gène HE1/NPC2.

UNLABELLED: We report the fifth case of neonatal form of type C2 (NP-C2) Niemann-Pick disease with early and fatal respiratory distress. Eleven families presenting such cases are known to date in the world. Since December 2000, isolation of the underlying gene HE1/NPC2 and its mutations has allowed major advances in diagnosis. CASE REPORT: Elisa was born in May 2000. NP-C2 disease was associated with severe respiratory distress leading to death at the age of four months. On the next pregnancy in September 2000, prenatal diagnosis was performed by means of biological tests that required four weeks response time. In December 2000, isolation of the HE1/NPC2 gene located to 14q24.3 and of some of its mutations allowed to characterize the patient as being homozygote for the nonsense mutation E20X. On the the two next pregnancies, prenatal diagnosis was performed at 12 SA, in 48 hours, by the means of mutation analysis. The last fetus was heterozygote for the mutation E20X, allowing the birth at term of a healthy male newborn baby. CONCLUSION: Niemann-Pick type C disease is a rare lysosomal lipid storage disease with severe prognosis. It is characterized by abnormalities of intracellular transport of endocytosed cholesterol. Diagnosis relies on biological tests that require cultured cells. Genetic heterogeneity defines two different genetic complementation groups C1 and C2. Severe and early respiratory distress is more likely to be associated with the rare type C2. Since December 2000, after identification of the disease-causing mutations in the proband, mutation analysis of gene HE1/NPC2 on direct chorionic villus samples allows early and fast (48 hours) prenatal diagnosis.

[Intractable diarrhoea revealing a neuroblastoma hypersecreting the vasoactive intestinal peptide]. / Diarrhée profuse révélatrice d'un neuroblastome hypersécrétant le vasoactive intestinal peptide.

In children, the watery diarrhoea-hypokalemia-achlorhydria (WDHA) syndrome is uncommon and usually due to a neuroblastic tumour hypersecreting the vasoactive intestinal peptide (VIP). We report a case of WDHA syndrome secondary to hypersecretion of VIP that revealed a neuroblastoma in a 13-month-old girl. A secretory diarrhoea, characterised by the persistence of diarrhoea despite the cessation of oral feeding, led to the search of a neuroblastic tumour in the patient. The serum concentration of VIP decreased to normal values soon after the surgical excision of the tumour.