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Genetically determined leukoencephalopathies comprise a group of rare inherited white matter disorders. The majority are progressive diseases resulting in early death. We performed a cross-sectional pilot study including 55 parents from 36 families to assess the level of stress experienced by parents of patients with genetically determined leukoencephalopathies, aged 1 month to 12 years. Thirty-four mothers and 21 fathers completed the Parenting Stress Index–4th Edition. One demographic questionnaire was completed per family. Detailed clinical data was gathered on all patients. Statistical analysis was performed with total stress percentile score as the primary outcome. Mothers and fathers had significantly higher stress levels compared with the normative sample; 20% of parents had high levels of stress whereas 11% had clinically significant levels of stress. Mothers and fathers had comparable total stress percentile scores. We identified pediatric behavioral difficulties and gross motor function to be factors influencing stress in mothers. Our study is the first to examine parental stress in this population and highlights the need for parental support early in the disease course. In this pilot study, we demonstrated that using the Parenting Stress Index–4th Edition to assess stress levels in parents of patients with genetically determined leukoencephalopathies is feasible, leads to valuable and actionable results, and should be used in larger, prospective studies.

Background Pure distal 1q trisomy is rare and there is limited information on genotype-phenotype correlation. The common 1q trisomy phenotype attributed to the 1q42qter segment is based on a small number of patients and consists of small for gestational age, developmental delay, macrocephaly, dysmorphic features and heart defects. Objective To clarify the genotype-phenotype correlation of pure distal 1q trisomy. Design/method We report five patients with pure distal 1q trisomy: 1q32.2qter (patient 1), 1q41q44 (patient 2), 1q43qter (patient 5) and 1q42.13qter in two siblings (patient 3 and 4). A PubMed search was done to identify patients with trisomies distal to 1q32. Patients with pure 1q trisomies that matched the duplications found in our patients were selected. Results Thirty-three patients have been reported with partial trisomy distal to 1q32. Only 17 patients with pure 1q trisomy matched our patients’: ten for 1q32qter, four for 1q41q44, two for 1q42qter and one for 1q43qter. Our patients presented additional features than the common 1q trisomy phenotype. Patients 1, 2, 3 and 4 have had frequent infections with normal immunological status. Patients 1, 3 and 4 had significant sleeping problems. Patients 3 and 4 have camptodactyly and patient 4 had hypertrophied cardiomyopathy. Patients 4 and 3 respectively have moderate and mild intellectual deficiency, a feature that was thought to be mostly normal distal to the 1q42 region. Conclusions The partial 1q trisomy phenotype is constantly expanding. An improved definition allows for the identification of critical regions and better genetic counselling and follow up.