Rehabilitation therapies in Rett syndrome across the lifespan: A scoping review of human and animal studies.

PURPOSE: To perform a scoping review of the evidence for therapeutic interventions to manage functional impairments associated with Rett syndrome (RTT) throughout the lifespan. METHODS: MEDLINE, EMBASE, PsycINFO, CENTRAL, CINAHL, Scopus and Index to Chiropractic Literature were searched systematically up to December 2019. Two investigators independently reviewed all search results and extracted those that met the inclusion criteria. Human and animal model studies pertaining to therapies that increase functional ability or treat RTT-associated symptoms in all age groups were included. Relevant studies were grouped into intervention categories and rated using the Oxford Centre of Evidence Based Medicine Levels of Evidence. Demographics of participants, interventions, and outcomes were summarized. RESULTS: Ninety-one articles representing 88 studies met the inclusion criteria, of which 80 were human clinical studies and eight were studies using animal models. Study designs were primarily case series and only six studies involved participants above the age of 40. CONCLUSION: A small number of rigorously studied rehabilitation interventions have been published. Published studies aim to address a wide variety of functional impairments. Research regarding implementation of therapies for older patients with RTT is lacking and requires further exploration.

Aphonogelia After Recovery From Severe Traumatic Brain Injury: A Case Report.

During rehabilitation from a severe traumatic brain injury, a 16-year-old girl became aware that she had lost the ability to laugh out loud. This rare phenomenon previously has been described as "aphonogelia." A discussion of therapeutic avenues that were explored with this patient is presented in the first case, to our knowledge, of aphonogelia after a traumatic brain injury. LEVEL OF EVIDENCE: V.

A Systematic Review of Psychiatric, Psychological, and Behavioural Outcomes following Mild Traumatic Brain Injury in Children and Adolescents.

BACKGROUND: Evidence regarding longer-term psychiatric, psychological, and behavioural outcomes (for example, anxiety, mood disorders, depression, and attention disorders) following mild traumatic brain injury (mTBI) in children and adolescents has not been previously synthesized. OBJECTIVE: To conduct a systematic review of the available evidence examining psychiatric, psychological, and behavioural outcomes following mTBI in children and adolescents. MATERIALS AND METHODS: Nine electronic databases were systematically searched from 1980 to August 2014. Studies selected met the following criteria: original data; study design was a randomized controlled trial, quasi-experimental design, cohort or historical cohort study, case-control study, or cross-sectional study; exposure included mTBI (including concussion); population included children and adolescents (<19 years) at the time of mTBI, as well as a comparison group (for example, healthy children, children with orthopaedic injuries); and included psychiatric, psychological, or behavioural outcomes (for example, anxiety, mood disorders, depression, attention disorders). Two authors independently assessed the quality and level of evidence with the Downs and Black (DB) criteria and Oxford Centre of Evidence-Based Medicine (OCEBM) model, respectively, for each manuscript. RESULTS: Of 9472 studies identified in the initial search, 30 were included and scored. Heterogeneity in methodology and injury definition precluded meta-analyses. The median methodological quality for all 30 studies, based on the DB criteria, was 15/33 (range 6 to 19). The highest level of evidence demonstrated by all reviewed studies was level 2b based on OCEBM criteria, with the majority (28/30 studies) classified at this level. Based on the literature included in this systematic review, psychological and psychiatric problems in children with a history of mTBI were found to be more prevalent when mTBI is associated with hospitalization, when assessment occurs earlier in the recovery period (that is, resolves over time), when there are multiple previous mTBIs, in individuals with preexisting psychiatric illness, when outcomes are based on retrospective recall, and when the comparison group is noninjured healthy children (as opposed to children with injuries not involving the head). CONCLUSIONS: Overall, few rigorous prospective studies have examined psychological, behavioural, and psychiatric outcomes following mTBI. In the absence of true reports of preinjury problems and when ideally comparing mild TBI to non-TBI injured controls, there is little evidence to suggest that psychological, behavioural, and/or psychiatric problems persist beyond the acute and subacute period following an mTBI in children and adolescents.

Magnetic resonance imaging findings of bilateral thalamic involvement in severe paroxysmal sympathetic hyperactivity: a pediatric case series.

PURPOSE: Paroxysmal sympathetic hyperactivity is a complication of brain injury that has mainly been described in the adult brain injury literature. METHODS: We present a case series of three pediatric patients that developed paroxysmal sympathetic hyperactivity of varying severity following hypoxic brain injury. RESULTS: Comparison of brain magnetic resonance imaging revealed bilateral and symmetric global ischemic changes in all three cases. However, the thalamus was not affected in the patient with the mild case of paroxysmal sympathetic hyperactivity. In contrast, bilateral and symmetric damage to the thalamus was observed in the two severe cases. CONCLUSIONS: Our case series suggests that in hypoxic brain injury, evidence of bilateral ischemic injury to the thalamus on magnetic resonance imaging may be an important early predictor of severity and length of paroxysmal sympathetic hyperactivity. While this is an interesting observation, definite proof of our hypothesis requires further research including analysis of larger numbers of patients and comparison of MRI findings in children with hypoxic brain injury that do not develop paroxysmal sympathetic hyperactivity.

The correlation of dystonia severity and serum transaminases in a child with a brain injury.

BACKGROUND: Severe anoxic brain injury can lead to prolonged episodes of status dystonicus. Sustained dystonia can result in skeletal muscle breakdown and elevation of serum transaminases, which can initially be confused with polypharmacy-related hepatotoxicity or an underlying metabolic condition. PATIENT: We present a 19-month-old boy who sustained a severe anoxic brain injury in the setting of a viral upper respiratory tract infection. Within 2 weeks after injury, he developed prolonged periods of severe dystonia. RESULTS: Serum creatine kinase peaked at 4504 U/L, alanine transaminase at 183 U/L, and aspartate transaminase at 198 U/L. CONCLUSIONS: This child demonstrated a clear correlation between severity of dystonia after brain injury and changes in serum alanine transaminase, aspartate transaminase, and creatine kinase. In the literature, aspartate transaminase and alanine transaminase elevations have been reported in seizures, myopathies, and extreme exercise. This is the first report of serum transaminase elevation secondary to dystonia. Early identification of skeletal muscle causes of increased alanine transaminase and aspartate transaminase may prevent unnecessary investigations and can reduce concern about medication-related hepatotoxicity.