ABSTRACT
Remote technology provides an opportunity to extend the reach of clinical care and research for pediatric rare disease. This pilot study evaluated the feasibility and reliability of neuropsychological evaluation, using remote audiovisual technology, in the assessment of children with juvenile Batten disease. Three children with Batten disease and 1 healthy sibling completed a standardized cognitive assessment. Results indicated high agreement between an in-person and a remote evaluator when comparing the subjects' cognitive test scores. This initial test of remote cognitive assessment suggests it is feasible and reliable in children with pediatric neurodegenerative disease, for whom disease burden may limit travel and access to expert care and/or clinical trials.
Subject(s)
Cognition , Neuronal Ceroid-Lipofuscinoses/diagnosis , Neuronal Ceroid-Lipofuscinoses/psychology , Neuropsychological Tests , Telemedicine/methods , Adolescent , Child , Feasibility Studies , Humans , Male , Membrane Glycoproteins/genetics , Molecular Chaperones/genetics , Neuronal Ceroid-Lipofuscinoses/genetics , Pilot Projects , Reproducibility of Results , TravelABSTRACT
OBJECTIVE: The Diagnostic Interview Schedule for Children IV (DISC) has been used extensively in research and screening. Despite wide use, little information exists on the validity of the DISC for diagnosing tic disorders. METHODS: Participants were 181 youth with expert clinician-diagnosed Tourette syndrome (TS). RESULTS: Using expert clinician-diagnosed TS as the gold standard, the sensitivity of the DISC-Y (youth, 0.27) and DISC-P (parent, 0.44) was poor. The DISC-Y identified 29.7% of youth with diagnosed TS whereas the DISC-P identified 47.4% of cases. Only 54% of cases of TS were detected by either the DISC-Y or -P. Diagnostic agreement between the DISC and expert clinician diagnosis was poor. The DISC-Y/P results did not differ as a function of tic severity. CONCLUSIONS: Despite utility for assessing child psychiatric disorders, the sensitivity of the DISC for detecting TS appears poor. This study suggests that DISC has low agreement with expert clinician diagnosis of TS. Findings highlight the need for modification of the DISC and/or the identification and development of more sensitive measures for TS screening.
Subject(s)
Interview, Psychological/methods , Tourette Syndrome/diagnosis , Adolescent , Child , Female , Humans , Male , Sensitivity and Specificity , Severity of Illness Index , Tourette Syndrome/physiopathologyABSTRACT
Evidence suggests that children and adults diagnosed with autism spectrum disorders (ASD) exhibit difficulties with postural control. Retrospective video studies of infants later diagnosed with ASD indicate that infants who eventually receive an ASD diagnosis exhibit delays in postural development. This study investigates early posture development prospectively and longitudinally in 22 infants at heightened biological risk for ASD (HR) and 18 infants with no such risk (Low Risk; LR). Four HR infants received an autism diagnosis (AD infants) at 36 months. Infants were videotaped at home at 6, 9, 12, and 14 months during everyday activities and play. All infant postures were coded and classified as to whether or not they were infant-initiated. Relative to LR infants, HR infants were slower to develop skill in sitting and standing postures. AD infants exhibited substantial delays in the emergence of more advanced postures and initiated fewer posture changes. Because posture advances create opportunities for infants to interact with objects and people in new and progressively more sophisticated ways, postural delays may have cascading effects on opportunities for infant exploration and learning. These effects may be greater for infants with ASD, for whom posture delays are more significant.
