The aims of this study were: –to describe the health profiles and care management of polyhandicapped patients according to 3 modalities specialized rehabilitation centers (SRC), residential facilities (RF), and home care (HC); –to estimate the adequacy of care management of these patients. This was an 18-month cross-sectional study including patients with a combination of severe motor deficiency and profound intellectual impairment. The patients were from 4 SRC, 9 RF, and a pediatric/neurologic department (HC). The following data were collected: sociodemographics, health status, care management, and adequacy of care management. A total of 875 patients were included: 410 (47%) were cared for in SRC, 372 (43%) in RF, and 84 (10%) in HC. Global objective adequacy (health severity and age category) was higher for patients cared for in SRC compared with patients cared for in RF (57 vs. 44%, P≤10−3). Global subjective adequacy (self-perception of the referring physician and request of change in structure) was higher for patients cared for in SRC (98%) in comparison with patients cared for in RF and HC (92 and 87%). This study provides key elements of adequacy of care management modalities for polyhandicapped patients in France.

The cobalamin type C deficiency is a rare condition that results from impaired biosynthesis of both methylcobalamin (MeCbl) and adenosylcobalamin (AdoCbl). Hemizygous mutations of the HCFC1 gene explain the majority of clinically and biologically compatible cblC patients without MMACHC mutations (OMIM 309541). We report a family with two maternal half-brothers with multiple congenital anomalies and HCFC1 gene mutation in the second Kelch domain. Both presented with dysmorphic features (flat profile, cleft lip for one), increased nuchal translucency, prenatal onset microcephaly and hypospadias. Additionally to early onset intractable epilepsy and profound neurocognitive impairment, this familial observation suggests that HCFC1 gene should be considered in boys with midline malformations, even without proven cobalamin C deficiency.

AIM:This study concerns the aetiologies, comorbidities and places and causes of death of a population of persons with severe polyhandicap (PLH).METHODS:Based on the medical files of all deceased PLH patients, who were cared for between 2006-2012. Data collected were aetiological diagnosis of the polyhandicap, duration and type of hospitalization, age, place and cause of death, comorbidities: chronic respiratory insufficiency, recurrent attacks of pulmonary infections, urinary infections, active epilepsy, scoliosis, chronic digestive disorders and behavioural problems.RESULTS:One hundred and thirty-three patients died, 70 children and 63 adults. The sex ratio was 84 men to 49 women. The average stay in these institutions was 10 years 4 months. The average age at the time of death was 21 years, in 60% of cases the place of death was in the specialist rehabilitation centres. The causes of death in decreasing order were: pulmonary infections (63.2%), sudden death (18%) and status epilepticus (6.8%); 79.7% of patients suffered from chronic respiratory insufficiency, 60.2% suffered serious scoliosis, 66.9% drug-resistant epilepsy and 78.9% had digestive disorders. The main aetiologies of the polyhandicap were: pre- and perinatal encephalopathies (31.6%), metabolic encephalopathies (18%) and convulsive encephalopathies (11.3%).CONCLUSION:The main comorbidity and main cause of death in patients with severe PLH is respiratory failure.