Leukodystrophies are a group of neurodegenerative genetic disorders that affect approximately 1 in 7500 individuals. Despite therapeutic progress in individual leukodystrophies, guidelines in ...neurologic care are sparse and consensus among physicians and caregivers remains a challenge. At patient advocacy meetings hosted by Hunter’s Hope from 2016-2018, multidisciplinary experts and caregivers met to conduct a literature review, identify knowledge gaps and summarize best practices regarding neurologic care. Stages of severity in leukodystrophies guided recommendations to address different levels of need based on a newly defined system of disease severity. Four core neurologic domains prioritized by families were identified and became the focus of this guideline: sleep, pain, seizures/epilepsy, and language/cognition. Based on clinical severity, the following categories were used: presymptomatic, early symptomatic, intermediate symptomatic, and advanced symptomatic. Across the leukodystrophies, neurologic care should be tailored to stages of severity while accounting for unique aspects of every disease and multiple knowledge gaps present. Standardized tools and surveys can help guide treatment but should not overburden families.
Abstract Objective To investigate the psychometric properties of the Physical Abilities and Mobility Scale (PAMS) in children receiving inpatient rehabilitation for acquired brain injury (ABI). ...Design Admission and discharge PAMS item and total scores were evaluated. The WeeFIM was used as the criterion standard. A case study was used to illustrate the complementary nature of the PAMS and WeeFIM. Setting A single, free-standing, academically affiliated pediatric rehabilitation hospital. Participants Children (N=107) aged 2 through 18 years receiving inpatient rehabilitation for ABI between March 2009 and March 2012. Forty-two additional children treated during this time were excluded because of missing PAMS data. Interventions Not applicable. Main Outcome Measures Internal consistency was evaluated using Cronbach alpha. Interrater reliability was evaluated through overall agreement, Pearson correlations, and intraclass correlations. Construct validity was examined through exploratory factor analysis. Criterion validity was explored through correlations of PAMS overall and factor scores with WeeFIM total and subscale scores. Sensitivity to recovery was examined using paired t tests, examining differences between admission and discharge scores for each item and for the total score. Results Internal consistency and interrater reliability were high. Factor analysis revealed 2 factors: lower-level skills and higher-level mobility skills. Correlations with the WeeFIM ranged from moderate to very strong; total PAMS score most strongly correlated with the WeeFIM mobility subscore. Total PAMS score and each item score significantly increased between admission and discharge. Conclusions The PAMS is a reliable and valid measure of progress during inpatient rehabilitation for children with ABI. By capturing fine-grain progress toward both lower-level and higher-level mobility skills, the PAMS complements the WeeFIM in assessing functional gains during the rehabilitation stay.
To examine in a pilot cohort factors associated with functional outcome at discharge and 3-month follow-up after discharge from inpatient rehabilitation in children with severe traumatic brain injury ...(TBI) who entered rehabilitation with the lowest level of functional skills.
Thirty-nine children and adolescents (3-18 years old) who sustained a severe TBI and had the lowest possible rating at rehabilitation admission on the Functional Independence Measure for Children (total score = 18).
Retrospective review of data collected as part of routine clinical care.
At discharge, 59% of the children were partially dependent for basic activities, while 41% remained dependent for basic activities. Initial Glasgow Coma Scale score, time to follow commands, and time from injury to rehabilitation admission were correlated with functional status at discharge. Time to follow commands and time from injury to rehabilitation admission were correlated with functional status at 3-month follow-up. Changes in functional status during the first few weeks of admission were associated with functional status at discharge and follow-up.
Even children with the most severe brain injuries, who enter rehabilitation completely dependent for all daily activities, have the potential to make significant gains in functioning by discharge and in the following few months. Assessment of functional status early in the course of rehabilitation contributes to the ability to predict outcome from severe TBI.
Responsiveness and agitation are common targets for pharmaceutical intervention after traumatic brain injury (TBI) in children. This focused review presents a critical discussion of the limited ...literature available on the use of medications for disorders of consciousness and agitation in children with TBI. For disorders of consciousness, evidence from several small studies supports a potential benefit of dopaminergic agents for improving responsiveness in some children with lower levels of function after TBI. Larger studies, likely requiring multicenter collaborations, are needed to more definitively address questions regarding the use of medications for responsiveness in children with TBI. The literature regarding use of pharmaceutical agents for agitation in children with TBI is even more limited. The dearth of literature regarding the effects of medications used for agitation in children with TBI highlights the need for additional basic and clinical science contributions in this area.
Sturge-Weber syndrome is a rare neurocutaneous disorder that often results in functional impairment caused by motor (typically hemiparesis) and cognitive deficits. A retrospective chart review of ...physiatric evaluation of 30 individuals, aged 4 mos to 55 yrs (median age, 2.4 yrs), with Sturge-Weber syndrome with brain involvement was conducted for the purpose of summarizing physiatric findings and recommendations in this cohort. Presence or absence of motor, cognitive, and behavioral concerns and need for orthoses, spasticity management, and therapy services were noted. Hemiparesis was common, but the need for intervention for spasticity was rare. Cognitive and behavioral concerns were noted frequently, meriting additional evaluation. Case vignettes are presented to highlight (1) a child with repeated functional setbacks in association with increased seizure frequency who, with seizure control, demonstrated return to functional baseline and subsequent further skill development and (2) a child with Sturge-Weber syndrome who made functional gains with constraint-induced movement therapy.
Experimental and clinical evidence is accumulating that supports the assertion that the damaged human brain is capable of responding to sensory stimulation in a sufficient manner to result in ...sustainable and useful benefits. The intensity and duration of therapeutic maneuvers that elicit improvement are under active investigation. Recent studies in animals, adults, and children with hemiparesis have shown that constraint of the less involved upper limb coupled with a behavioral program that repetitively encourages graded unilateral movements can result in long-term "new" functional activities. Constraint-induced movement therapy (CIMT) is a promising approach for treatment of children with stroke-related hemiparesis from either prenatal or postnatal causes due to the enhanced neuroplasticity of the brain during early life.
Patterns and predictors of recovery from encephalitis are poorly understood.
This study examined functional status and reviewed charts of all children who presented to a pediatric inpatient ...rehabilitation facility with encephalitis between 1996 and 2010. Functional status at admission and discharge from inpatient rehabilitation was evaluated using the Functional Independence Measure for Children (WeeFIM) Self-care, Mobility, Cognitive, and Total Developmental Functional Quotient scores (DFQ, % of age-appropriate function). Charts were reviewed to characterize key clinical features and findings.
Of the 13 children identified, the mean age was 9 years (range 5-16) with 54% males. Mean WeeFIM Total DFQ at admission was 37 (range: 15-90) and at discharge was 64 (range: 16-96). Average change in WeeFIM Total DFQ from admission to discharge was 26.7 (range 0-55, p < 0.001). WeeFIM domain scores improved between admission and discharge (Self-Care: p < 0.001, Cognition: p < 0.01, Mobility: p < 0.001). Eleven children displayed significant impairments in functional skills, defined as DFQ of < or =85, at discharge. Key clinical features and findings were diverse and not related to functional outcome.
Results suggest that significant functional improvement in children with encephalitis occurs during inpatient rehabilitation. Further research is necessary to identify predictors of outcome in children with encephalitis.
We present a case that is unusual in many respects from other documented incidences of auditory agnosia, including the mechanism of injury, age of the individual, and location of neurological insult. ...The clinical presentation is one of disturbance in the perception of spoken language, music, pitch, emotional prosody, and temporal auditory processing in the absence of significant deficits in the comprehension of written language, expressive language production, or peripheral auditory function. Furthermore, the patient demonstrates relatively preserved function in other aspects of audition such as sound localization, voice recognition, and perception of animal noises and environmental sounds. This case study demonstrates that auditory agnosia is possible following traumatic brain injury in a child, and illustrates the necessity of assessment with a wide variety of auditory stimuli to fully characterize auditory agnosia in a single individual.
PDF
