The Brief Family Distress Scale: A Measure of Crisis in Caregivers of Individuals with Autism Spectrum Disorders

DOI 10.1007/s10826-010-9419-yParents of individuals with autism spectrum disorders (ASD) often experience stressors associated with caring for their child. These stressors can cause considerable distress for families, which at times can develop into full blown crisis, and it is important that professionals be able to quickly identify when families are approaching or are in crisis to respond appropriately. The current study presents an initial attempt to measure the subjective experience of crisis in 164 caregivers of people with ASD through a single item instrument, the Brief Family Distress Scale. The BFDS was negatively correlated with helpful coping mechanisms (family hardiness, and parent empowerment), and positive adjustment (caregiver quality of life and positive parenting experiences), and positively correlated with known stressors (severity of aggressive behavior, negative life events) and problematic coping and outcomes (caregiver burden, worry, mental health problems). As expected, caregivers at Marked levels of distress (approaching or in crisis) were significantly different from caregivers at lower levels of distress in nearly all of the dependent variables. Having a quick way of measuring where families are in terms of distress and crisis can be helpful for researchers and clinicians alike.Ontario Mental Health Foundatio

16p11.2–p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2

Chromosome 16 contains multiple copy number variations (CNVs) that predispose to genomic disorders. Here, we differentiate pathogenic duplications of 16p11.2–p12.2 from microscopically similar euchromatic variants of 16p11.2. Patient 1 was a girl of 18 with autism, moderate intellectual disability, behavioural difficulties, dysmorphic features and a 7.71-Mb (megabase pair) duplication (16:21?521?005–29?233?146). Patient 2 had a 7.81-Mb duplication (16:21?382?561–29?191?527), speech delay and obsessional behaviour as a boy and, as an adult, short stature, macrocephaly and mild dysmorphism. The duplications contain 65 coding genes of which Polo-like kinase 1 (PLK1) has the highest likelihood of being haploinsufficient and, by implication, a triplosensitive gene. An additional 1.11-Mb CNV of 10q11.21 in Patient 1 was a possible modifier containing the G-protein-regulated inducer of neurite growth 2 (GPRIN2) gene. In contrast, the euchromatic variants in Patients 3 and 4 were amplifications from a 945-kb region containing non-functional immunoglobulin heavy chain (IGHV), hect domain pseudogene (HERC2P4) and TP53-inducible target gene 3 (TP53TG3) loci in proximal 16p11.2 (16:31?953?353–32?898?635). Paralogous pyrosequencing gave a total copy number of 3–8 in controls and 8 to >10 in Patients 3 and 4. The 16p11.2–p12.2 duplication syndrome is a recurrent genomic disorder with a variable phenotype including developmental delay, dysmorphic features, mild to severe intellectual disability, autism, obsessive or stereotyped behaviour, short stature and anomalies of the hands and fingers. It is important to differentiate pathogenic 16p11.2–p12.2 duplications from harmless, microscopically similar euchromatic variants of proximal 16p11.2, especially at prenatal diagnosi

Prenatal and nutritional influences on skeletal development: lessons from animal studies

It is now well established that the onset of adult diseases such as heart disease, stroke, type 2 diabetes and hypertension are linked to an adverse uterine growth environment, in particular through maternal nutrition, during development of the individual. The geographical distribution of the incidence rate of heart disease is similar to that of osteoporosis. This may indicate a link between maternal nutrition during pregnancy and the subsequent risk of developing osteoporosis in the offspring. This review summarises what we know to date, from animal models, about maternal nutrition and the subsequent alterations in the offspring’s skeletal structure