ABSTRACT
An exploratory survey to identify the barriers experienced by caregivers of children with autism spectrum disorders (ASD) when implementing home programs (HP) was conducted with a newly developed questionnaire, 'barriers in the parent-based home program for ASD (BHPQ-ASD)' in English and Malayalam. The questionnaire has 25 items in Likert scale response format and underwent face validation and cognitive debriefing. It was administered to 50 caregivers of ASD children for factor extraction and reliability analysis. Seven questions under service provider-related barriers emerged to have good psychometric properties in the principal axis factoring method and were grouped to form the 'service provider-related BHPQ-ASD' scale, which has very good internal consistency (Cronbach alpha 0.903). In regression analysis, parents of children not receiving occupational therapy (OT) reported 6.6 times more barriers when compared to those undergoing OT (OR 6.6, CI 1.5-29.7, p = 0.014). BHPQ-ASD is a useful valid tool for detecting the barriers to implementing HPs.
Subject(s)
Autism Spectrum Disorder , Child , Humans , Autism Spectrum Disorder/diagnosis , Autism Spectrum Disorder/therapy , Autism Spectrum Disorder/psychology , Reproducibility of Results , Surveys and Questionnaires , Psychometrics , Caregivers/psychologyABSTRACT
L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive neurometabolic disorder caused by the deficiency of L-2-hydroxyglutarate dehydrogenase (L2HGDH) enzyme. Dystonia, ataxia, pyramidal involvement and seizures are the common clinical manifestations. Coexisting behavioural problems and intellectual disability are also seen, however attention deficit hyperactivity disorder (ADHD) as the presenting clinical feature in L2HGA is rarely described. Here, we report a 5-year-old boy with behavioural problems and mild language delay. On clinical assessment, he fulfilled the diagnostic criteria for ADHD. His MR brain sequences showed classical finding of L2HGA-bilateral symmetrical T2-weighted hyperintensity involving subcortical white matter, basal ganglia and dentate nucleus. Urine analysis showed increased levels of 2-hydroxyglutaric acid and exome sequencing (targeted leukodystrophy panel) revealed homozygous likely pathogenic mutation in L2HGDH He was started on high dose of riboflavin and levocarnitine and rehabilitative measures with which he had improvement in behavioural symptoms. This case illustrates the pivotol role of MR brain imaging in the diagnosis of inborn errors of metabolism.