In this study, we will conduct retrospective chart and imaging reviews and prospective longitudinal virtual assessments of individuals with LBSL.
Confirmed DARS2 mutation through genetic analysis
Ability of the caregiver or participant to speak and understand English at an 8th-grade level
The vulnerable populations of prisoners, non-viable neonates, pregnant women, adults lacking the capacity to consent, non-English speakers or children who are in foster care or wards of the state.
All case subjects will be known to have leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation.
Cohort
Prospective
Not listed
Track Natural History of LBSL patients using medical record review
Participants will be asked to provide all prior neurological, developmental and genetics medical records and available neuroimaging studies. We will first confirm eligibility by review of MRI and DARS2 mutation analysis. We will determine information about disease duration, rate of symptom progression and prevalence of specific neurological symptoms and the level of disability. We have derived an MRI severity score by modifying a standard leukodystrophy MRI scoring system, referred to as the Loes severity score (developed by Dr. Daniel Loes). This score is routinely used by radiologists. We will be reviewing and scoring participant neuroimages to better understand correlation with disease severity and progression.
Assessment of behavior in patients with LBSL using standardized neurocognitive surveys.
After the participant is enrolled, they will receive several neurocognitive assessments that will be sent digitally, including the Child or Adult Behavior Checklist (CBCL/ABCL). The CBCL/ABCL is one of most widely used measures in psychology to identify behavioral problems or mood disorders in children or adults, respectively. The scoring of this checklist is grouped by eight empirically based syndrome scales. These include aggressive behavior, anxious/depressed, attention problems, rule-breaking behavior, somatic complaints, social problems, thought problems, withdrawal/depression symptoms. The CBCL has standardized scores for children of the same gender and similar age and are interpreted as falling in the normal, borderline, or clinical range.
Assessment of social communication in patients with LBSL using standardized neurocognitive surveys.
After the participant is enrolled, they will receive several neurocognitive assessments that will be sent digitally, including the Social Communication Questionnaire (SCQ) The SCQ used by the International Autism Network will be used to screen individuals for Autism Spectrum Disorder and is completed by a caregiver. The SCQ is a 40 item, parent report screening measure that identifies whether a child has the associated symptoms of autism spectrum disorder.
Assessment of executive function in patients with LBSL using standardized neurocognitive surveys.
After the participant is enrolled, they will receive several neurocognitive assessments that will be sent digitally, including the Behavioral Rating Inventory of Executive Function (BRIEF).The BRIEF assesses impairment of executive function by evaluating eight clinical scales of executive function including inhibit, shift, emotional control, initiate, working memory, plan/organize, organization of materials, and monitor.The BRIEF exists for preschool children (2-5) and there are self-report versions for adolescents and adults.
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