Stress in Parents of Children With Genetically Determined Leukoencephalopathies: A Pilot Study.

Genetically determined leukoencephalopathies comprise a group of rare inherited white matter disorders. The majority are progressive diseases resulting in early death. We performed a cross-sectional pilot study including 55 parents from 36 families to assess the level of stress experienced by parents of patients with genetically determined leukoencephalopathies, aged 1 month to 12 years. Thirty-four mothers and 21 fathers completed the Parenting Stress Index-4th Edition. One demographic questionnaire was completed per family. Detailed clinical data was gathered on all patients. Statistical analysis was performed with total stress percentile score as the primary outcome. Mothers and fathers had significantly higher stress levels compared with the normative sample; 20% of parents had high levels of stress whereas 11% had clinically significant levels of stress. Mothers and fathers had comparable total stress percentile scores. We identified pediatric behavioral difficulties and gross motor function to be factors influencing stress in mothers. Our study is the first to examine parental stress in this population and highlights the need for parental support early in the disease course. In this pilot study, we demonstrated that using the Parenting Stress Index-4th Edition to assess stress levels in parents of patients with genetically determined leukoencephalopathies is feasible, leads to valuable and actionable results, and should be used in larger, prospective studies.

Treatment of MOG antibody associated disorders: results of an international survey.

INTRODUCTION: While monophasic and relapsing forms of myelin oligodendrocyte glycoprotein antibody associated disorders (MOGAD) are increasingly diagnosed world-wide, consensus on management is yet to be developed. OBJECTIVE: To survey the current global clinical practice of clinicians treating MOGAD. METHOD: Neurologists worldwide with expertise in treating MOGAD participated in an online survey (February-April 2019). RESULTS: Fifty-two responses were received (response rate 60.5%) from 86 invited experts, comprising adult (78.8%, 41/52) and paediatric (21.2%, 11/52) neurologists in 22 countries. All treat acute attacks with high dose corticosteroids. If recovery is incomplete, 71.2% (37/52) proceed next to plasma exchange (PE). 45.5% (5/11) of paediatric neurologists use IV immunoglobulin (IVIg) in preference to PE. Following an acute attack, 55.8% (29/52) of respondents typically continue corticosteroids for ≥ 3 months; though less commonly when treating children. After an index event, 60% (31/51) usually start steroid-sparing maintenance therapy (MT); after ≥ 2 attacks 92.3% (48/52) would start MT. Repeat MOG antibody status is used by 52.9% (27/51) to help decide on MT initiation. Commonly used first line MTs in adults are azathioprine (30.8%, 16/52), mycophenolate mofetil (25.0%, 13/52) and rituximab (17.3%, 9/52). In children, IVIg is the preferred first line MT (54.5%; 6/11). Treatment response is monitored by MRI (53.8%; 28/52), optical coherence tomography (23.1%; 12/52) and MOG antibody titres (36.5%; 19/52). Regardless of monitoring results, 25.0% (13/52) would not stop MT. CONCLUSION: Current treatment of MOGAD is highly variable, indicating a need for consensus-based treatment guidelines, while awaiting definitive clinical trials.

Central core myopathy with RYR1 mutation masks 5q spinal muscular atrophy.

We report the case of a male who presented in infancy with motor delay and muscle weakness. Typical muscle biopsy features and heterozygous RYR1 mutation confirmed a diagnosis of central core disease. Family studies showed this to be a de-novo mutation. Some years later, his two older teenage brothers presented with proximal muscle weakness. Neurophysiology, muscle biopsy and DNA studies confirmed spinal muscular atrophy. Subsequent genetic studies in the index case also confirmed homozygous deletions of exon 7 and 8 in the SMN gene. Review of the original muscle biopsy showed classical features of central core disease with no evidence to suggest denervation, such that the diagnosis of spinal muscular atrophy could not have been suspected in the absence of the family history.

Not a NICE CT protocol for the acutely head injured child.

AIM: To assess the impact of the introduction of the Birmingham Children's Hospital (BCH) head injury computed tomography (CT) guidelines, when compared with the National Institute of Health and Clinical Excellence (NICE) guidelines, on the number of children with head injuries referred from the Emergency Department (ED) undergoing a CT examination of the head. MATERIAL AND METHODS: All children attending BCH ED over a 6-month period with any severity of head injury were included in the study. ED case notes were reviewed and data were collected on a specifically designed proforma. Indications for a CT examination according to both NICE and BCH head injury guidelines and whether or not CT examinations were performed were recorded. RESULTS: A total of 1428 children attended the BCH ED following a head injury in the 6-month period. The median age was 4 years (range 6 days to 15 years) and 65% were boys. Four percent of children were referred for a CT using BCH guidelines and were appropriately examined. If the NICE guidelines had been strictly adhered to a further 8% of children would have undergone a CT examination of the head. All of these children were discharged without complication. The remaining 88% had no indication for CT examination by either BCH or NICE and appropriately did not undergo CT. CONCLUSIONS: Adherence to the NICE head injury guidelines would have resulted in a three-fold increase in the total number of CT examinations of the head. The BCH head injury guidelines are both safe and appropriate in the setting of a large children's hospital experienced in the management of children with head injuries.

Simultaneous occurrence of collagenous colitis and Crohn's disease.

A 59-year-old woman who presented initially with clinical and histological features of collagenous colitis subsequently developed Crohn's disease of the small and large bowel.