Autism spectrum disorder is a clinically heterogeneous condition, characterized by social deficits, language impairment, repetitive behaviors, and restricted interest. Autism displays significant genetic heterogeneity. In the past one and a half decades, next generation sequencing has enabled identification of many variants that predispose to autism. These discoveries have improved understanding of the disease etiology of autism spectrum disorder. In this review article, we will address how development of next generation sequencing has helped answer the following questions: 1. What are the modes of transmission/inheritance of autism? 2. What is the nature of genetic risk factors that contribute to autism? 3. Why is there a higher prevalence of autism in males than females?
Background:
Survivors of acute lymphoblastic leukemia (ALL) can experience chemotherapy-related changes in neuromuscular function, which can persist and impact the quality of life. Clinically, neuromuscular changes are assessed by observing gait. The primary aims of this study were to compare observational gait/functional movement analysis to matched electronic gait analysis in children with ALL and lymphoblastic lymphoma at specific time points during and after treatment.
Patients and Methods:
Participants 2 to 27 years old diagnosed with ALL/lymphoblastic lymphoma who were on or off therapy within 10 years were eligible. Participants underwent electronic gait assessment using GAITRite, observational gait, and functional movement analysis and completed quality of life questionnaires. Parents also completed quality-of-life assessments.
Results:
Electronic gait parameters were not different in this cohort compared with controls. Mean overall scores on observational gait and functional movement analysis improved over time. Hopping was the most frequent and walking was the least frequent noted deficit. Participants had a lower patient and parent-reported QoL scores compared with the general population
Conclusion:
Observational gait and functional movement analysis identified more deficits than the electronic gait assessment. Future studies are warranted to determine whether hopping deficits are an early clinical indicator of toxicity and signal for intervention.
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