Practical Approaches and Knowledge Gaps in the Care for Children With Leukodystrophies.

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.

The role of polysomnography in decannulation of children with brain and spinal cord injuries.

OBJECTIVE: The objective of this retrospective review was to determine the utility of polysomnography (PSG) in influencing the decision to decannulate pediatric patients with brain and spinal cord injuries in an inpatient rehabilitation hospital setting. METHODS: Between 2010 and 2016, data were collected on pediatric patients with brain and/or spinal cord injuries who had PSG performed with the goal of decannulation. Patients underwent a decannulation protocol involving toleration of continuous tracheostomy capping and bedside tracheoscopy by otolaryngology. Decision to decannulate was determined with input from multiple disciplines. Associations were examined between decannulation success and findings on PSG as well as demographic factors, injury characteristics, otolaryngology findings, and timeline from initial injury to selected events. RESULTS: A total of 46 patients underwent PSG, after which 38 (83%) were deemed appropriate and eight (17%) were deemed inappropriate for decannulation. Individuals who were deemed ready for decannulation had significantly lower obstructive apnea hypopnea indexes (AHI) (1.7 vs 5.4 events/h, P = 0.03), respiratory disturbance indexes (RDI) (2.4 vs 7.6 events/h, P = 0.006), and peak end tidal carbon dioxide (CO2 ) levels (50.0 vs 58.7 torr, P = 0.009) on PSG compared to those who were not decannulated. There were no complications following decannulation prior to discharge. CONCLUSION: PSG provided important additional information as part of a multidisciplinary team assessment of clinical readiness for decannulation in pediatric patients with brain and spinal cord injuries who underwent a decannulation protocol. Obstructive AHI, RDI, and peak end tidal CO2 level were associated with successful decannulation prior to discharge from inpatient rehabilitation.

Sleep, epilepsy, and autism.

The purpose of this review article is to explore the links between sleep and epilepsy and the treatment of sleep problems in children with autism spectrum disorder (ASD). Epilepsy and sleep have bidirectional relationships, and problems with both are highly prevalent in children with ASD. Literature is reviewed to support the view that sleep is particularly important to address in the context of ASD. Identification and management of sleep disorders may improve seizure control and challenging behaviors. In closing, special considerations for evaluating and treating sleep disorders in children with ASD and epilepsy are reviewed. This article is part of a Special Issue entitled "Autism and Epilepsy".

Associations between psychiatric comorbidities and sleep disturbances in children with attention-deficit/hyperactivity disorder.

OBJECTIVE: Children with attention-deficit/hyperactivity disorder (ADHD) often have sleep complaints and also higher rates of psychiatric comorbidities such as mood and anxiety disorders that may affect sleep. The authors hypothesized that children with ADHD and psychiatric comorbidities would have higher overall sleep disturbance scores as measured by a sleep questionnaire than children with ADHD without comorbidities. METHODS: This cross-sectional analysis in an academic center studied 317 children with ADHD; 195 subjects had no comorbid conditions, 60 were anxious and 62 were depressed. Participants completed the Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present State, 4th Revised Edition and the Children's Sleep Habits Questionnaire. RESULTS: Median age (range) was 8.9 (6-18.7) years; 78% were male. Median (interquartile range) Total Sleep Disturbance Score (TSDS) on Children's Sleep Habits Questionnaire for subjects with no comorbidities was 44 (40-49); anxiety, 48 (43-54); and depression, 46 (41-52). Compared with subjects without comorbidities, TSDS in anxious subjects was greater (p = .008). TSDS in depressed subjects was not significantly different. Compared with subjects without comorbidities, anxious subjects had higher Bedtime Resistance, Sleep Onset Delay, and Night Wakings subscales (p = .03, .007, and .007, respectively); depressed subjects had higher Sleep Onset Delay and Sleep Duration subscales (p = .003 and .01, respectively). CONCLUSIONS: Anxiety in children with ADHD contributed to higher overall sleep disturbance scores, compared with children with ADHD alone. Both comorbidities were associated with higher Sleep Onset Latency subscale scores. Further study of the impact of psychiatric comorbidities on sleep in children with ADHD is warranted.

Differences in overnight polysomnography scores using the adult and pediatric criteria for respiratory events in adolescents.

STUDY OBJECTIVES: There was no consensus in the 2007 American Academy of Sleep Medicine scoring manual on whether pediatric or adult respiratory criteria should be used in adolescents due to lack of data. Our objective was to compare pediatric and adult criteria in adolescents referred for obstructive sleep apnea (OSA). We hypothesized that pediatric criteria would capture more respiratory events than adult criteria. DESIGN: Retrospective cross-sectional analysis. SETTING: Clinical sleep laboratory. PARTICIPANTS: 101 subjects aged 13-18 years clinically referred for OSA. INTERVENTIONS: Overnight polysomnogram. Data were scored using both adult and pediatric AASM criteria. For adult criteria, data were scored using both AASM hypopnea rule A, defined by > or = 4% desaturation, and B, defined by > or = 3% desaturation or arousal. RESULTS: Median (range) apnea hypopnea index (AHI) by pediatric criteria was 1.7 events/hour (0-42.9). AHI using rule A was 0.4 (0-35.6); rule B, 1.4 (0-38.4). A higher pediatric AHI was associated with greater differences between pediatric and adult AHI using either rule A or B. There was no significant discordance in OSA classification comparing pediatric and adult criteria rule B (P = 0.3), but there was a significant rate of discordance classification comparing pediatric and adult criteria rule A(P < 0.001). CONCLUSIONS: Either pediatric or adult criteria rule B can be used in adolescents as few subjects change diagnostic category between these 2 criteria. Use of adult rule A results in fewer children meeting criteria for OSA. Further research into the clinical relevance of the scoring metric in adolescents is warranted.