Cannabis Use in Children With Pantothenate Kinase-Associated Neurodegeneration
children; developmental disability; dystonia; pediatric; treatment
BACKGROUND: Pantothenate kinase-associated neurodegeneration is characterized by severe, progressive dystonia. This study aims to describe the reported usage of cannabis products among children with pantothenate kinase-associated neurodegeneration. METHODS: A cross-sectional, 37-item survey was distributed in April 2019 to the families of 44 children who participate in a clinical registry of individuals with pantothenate kinase-associated neurodegeneration. RESULTS: We received 18 responses (40.9% response rate). Children were a mean of 11.0 (SD 4.3) years old. The 15 respondents with dystonia or spasticity were on a median of 2 tone medications (range 0-9). Seven children had ever used cannabis (38.9%). The most common source of information about cannabis was other parents. Children who had ever used cannabis were on more tone medications, were more likely to have used opiates, were less likely to be able to roll, and less likely to sit comfortably, than children who had never used cannabis. Four children reported moderate or significant improvement in dystonia with cannabis. Other areas reported to be moderate or significantly improved were pain (n = 3), sleep (n = 4), anxiety (n = 3), and behavior (n = 2). Adverse effects included sadness (n = 1), agitation/behavior change (n = 1), and tiredness (n = 1). CONCLUSION: Cannabis use was commonly reported among children with pantothenate kinase-associated neurodegeneration whose parents responded to a survey, particularly when many other dystonia treatments had been tried. Physicians should be aware that parents may treat their child with severe, painful dystonia with cannabis. Placebo-controlled studies of products containing cannabidiol and 9-tetrahydrocannabinol are needed for pediatric tone disorders.
Wilson J L; Gregory A; Wakeman K; Freed A; Rai P; Roberts C; Hayflick S J; Hogarth P
Journal of Child Neurology
2019
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1177/0883073819890516" target="_blank" rel="noreferrer noopener">10.1177/0883073819890516</a>
Autonomic breathing abnormalities in Rett syndrome: Caregiver perspectives in an international database study
Genotype; caregiver; Developmental disability; priority journal; data base; school child; autonomic dysfunction; noninvasive ventilation; oxygen; human; article; child; female; male; adult; questionnaire; Rett syndrome; breathing disorder; hyperventilation; mecp2; bloating; breath holding; Breathing disorders; breathing pattern; International database; mutation; onset age; Rare disorder; rebreathing; breathing difficulties; trajectory; characteristics; breath-holding; hyperventilation; abdominal bloating
Background: Rett syndrome is a severe neurodevelopmental disorder associated with mutations in the MECP2 gene. Irregular breathing patterns and abdominal bloating are prominent but poorly understood features. Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective. Methods: We invited previously recruited families from the International Rett Syndrome Study to complete a web-based questionnaire concerning their family member with Rett syndrome aged between 2 and 57 years. We used logistic regression to investigate presence, frequency and impact of breath-holding, hyperventilation, or abdominal bloating by age group and mutation type. Age of onset for both breathing abnormalities was investigated using time-to-onset analysis, and the Kaplan-Meier method was used to estimate the failure function for the study sample. Descriptive statistics were used to characterize the management of irregular breathing. Results: Questionnaires were returned by 413/482 (85.7%) families. Breath-holding was reported for 68.8%, hyperventilation for 46.4% and abdominal bloating for 42.4%. Hyperventilation was more prevalent and frequent in those younger than 7 years of age and abdominal bloating in those aged over 20 years. Onset of breathing irregularities usually occurred during early childhood. Caregivers perceived that daily life was considerably impacted for almost half (44.1%) of those with abdominal bloating and in just over than a third of those with breath-holding (35.8%) or hyperventilation (35.1%). Although perceived impact was broadly comparable between age and mutation groups for breath-holding, hyperventilation and abdominal bloating, girls and women with a p.Arg294*mutation were considered to be more affected by all three conditions. Only 31 individuals had received medically prescribed treatments including 12 different medications, added oxygen, rebreathing apparatus or non-invasive ventilation. Conclusions: Autonomic disturbances are prevalent and burdensome in Rett syndrome. This information may guide the design of inclusion criteria and outcome measures for clinical intervention trials targeting autonomic abnormalities. Further investigation of available treatments is necessary to delineate evidence-based management pathways. Copyright © 2017 The Author(s).
MacKay J; Downs J; Wong K; Heyworth J; Epstein A; Leonard H
Journal of Neurodevelopmental Disorders
2017
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1186/s11689-017-9196-7" target="_blank" rel="noreferrer noopener">10.1186/s11689-017-9196-7</a>
Sibling Relationships Over the Life Course: Growing Up With a Disability
lived experience; Israel; qualitative; developmental disability; health; families; interpretive phenomenological analysis
The research explores sibling relationships, and the ways in which they are shaped over the life course by family members, in families with a lifelong disability. In-depth, semistructured interviews were conducted with 15 family units including a parent, a sibling, and an adult sibling with a disability. The content analysis revealed five sibling relationship patterns: (a) "Not a child, but a parent caretaker"-the parent-surrogate sibling; (b) "We somehow grew apart"-the estranged sibling; (c) "It is important for me to maintain some kind of distance"-the bystander sibling; (d) "When there's something they want to tell him, they always send me"-the mediator sibling; and (e) "I love him to death"-the friend sibling. These patterns of adult sibling relationships are discussed in relation to family dynamics, values, and legacies; recommendations for practice and research are made.
Avieli H; Band-Winterstein T; Araten BT
Qualitative Health Research
2019
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1177/1049732319837228" target="_blank" rel="noreferrer noopener">10.1177/1049732319837228</a>
Profile Of Children With Developmental Disabilities Attending A Complex Pain Clinic Of A Children's Hospital In Australia
Children; Chronic Pain; Developmental Disability; Disability
AIM: To document the profile and management of children with developmental disabilities (DD) attending an outpatient complex pain clinic at a Children's Hospital in Sydney, Australia. METHODS: Children with DD from 2011 to 2014 were identified from a clinic database, and pain relevant data was collected. RESULTS: A total of 107 (19.6%) of 544 children were identified with DD, and accounted for one-third of clinic attendances. The median age was 14 years (interquartile range: 11-16) and females were slightly over-represented (62, 57.9%). About one-third of children had cerebral palsy (CP) from a variety of prenatal, natal and post-neonatal causes. The lower limb was the most common site for pain in children with CP, while back pain was more frequent in children with other disabilities. Comorbid emotional disorders were significantly associated with the non-CP disabilities. Children who required more than four clinic attendances were more likely to have comorbid anxiety/depression and to be reviewed by multiple specialists. CONCLUSIONS: Long-term persistent pain in children with DD forms a significant cohort of children requiring tertiary level paediatric pain services. Multisystem comorbidities and emotional disorders predict greater service utilisation. Further research into the effectiveness of multidisciplinary pain teams and interventions in this cohort of children is required.
Garg P; Haynes N; De Lima J; Collins J J
Journal Of Paediatrics And Child Health
2017
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
10.1111/jpc.13633