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A 10-year-old boy with spastic quadriplegic cerebral palsy (CP) was admitted into the hospital with a lower respiratory tract infection. His parents complained that he had a problem with excessive drooling of saliva; they had tried different treatments but to no avail. There was no formal guidance on the management of drooling in CP in the hospital. This raised the question regarding the effectiveness and safety of different interventions in the management of drooling in children with CP. In a child with CP (patient), which is the treatment with maximum effectiveness and minimum adverse effects (intervention) to reduce sialorrhoea (outcome)? MEDLINE, Embase, PsychINFO, AMED, PubMed, CINAHL, Cochrane Library and Google Scholar were searched from 1 January 1980 to 23 January 2020 and reference lists also scoured. Searches used synonyms of ‘drooling’ (sialorrhoea, hypersalivation, ptyalism, slobbering), ‘cerebral palsy’, ‘children’ and management/intervention/therapy. Two hundred and twenty-one unique records were screened (online supplementary figure 1) and 14 studies with 510 participants were included (table 1). Six studies evaluated the efficacy of botulinum toxin type A (BoNT-A) and one evaluated botulinum toxin type B (BoNT-B). Five trials examined pharmacological interventions: benztropine, glycopyrrolate and hyoscine. Three studies evaluated non-pharmacological non-invasive interventions: kinesio taping, oromotor exercises, functional chewing training and behavioural techniques. One randomised controlled trial (RCT) compared BoNT-A with submandibular duct ligation. No RCTs or controlled clinical trials could be retrieved on acupuncture or intraoral devices. ### Supplementary data [archdischild-2020-319309supp001.pdf] View this table: Table 1 Summary of included studies CP describes a group of permanent …

BACKGROUND: Juvenile forms of parkinsonism are rare conditions with onset of bradykinesia, tremor and rigidity before the age of 21 years. These atypical presentations commonly have a genetic aetiology, highlighting important insights into underlying pathophysiology. Genetic defects may affect key proteins of the endocytic pathway and clathrin-mediated endocytosis (CME), as in DNAJC6-related juvenile parkinsonism. OBJECTIVE: To report on a new patient cohort with juvenile-onset DNAJC6 parkinsonism-dystonia and determine the functional consequences on auxilin and dopamine homeostasis. METHODS: Twenty-five children with juvenile parkinsonism were identified from a research cohort of patients with undiagnosed pediatric movement disorders. Molecular genetic investigations included autozygosity mapping studies and whole-exome sequencing. Patient fibroblasts and CSF were analyzed for auxilin, cyclin G-associated kinase and synaptic proteins. RESULTS: We identified 6 patients harboring previously unreported, homozygous nonsense DNAJC6 mutations. All presented with neurodevelopmental delay in infancy, progressive parkinsonism, and neurological regression in childhood. (123) I-FP-CIT SPECT (DaTScan) was performed in 3 patients and demonstrated reduced or absent tracer uptake in the basal ganglia. CSF neurotransmitter analysis revealed an isolated reduction of homovanillic acid. Auxilin levels were significantly reduced in both patient fibroblasts and CSF. Cyclin G-associated kinase levels in CSF were significantly increased, whereas a number of presynaptic dopaminergic proteins were reduced. CONCLUSIONS: DNAJC6 is an emerging cause of recessive juvenile parkinsonism-dystonia. DNAJC6 encodes the cochaperone protein auxilin, involved in CME of synaptic vesicles. The observed dopamine dyshomeostasis in patients is likely to be multifactorial, secondary to auxilin deficiency and/or neurodegeneration. Increased patient CSF cyclin G-associated kinase, in tandem with reduced auxilin levels, suggests a possible compensatory role of cyclin G-associated kinase, as observed in the auxilin knockout mouse. DNAJC6 parkinsonism-dystonia should be considered as a differential diagnosis for pediatric neurotransmitter disorders associated with low homovanillic acid levels. Future research in elucidating disease pathogenesis will aid the development of better treatments for this pharmacoresistant disorder. © 2020 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.

Migrating partial seizures of infancy, also known as epilepsy of infancy with migrating focal seizures, is a rare early infantile epileptic encephalopathy with poor prognosis, presenting with focal seizures in the first year of life. A national surveillance study was undertaken in conjunction with the British Paediatric Neurology Surveillance Unit to further define the clinical, pathological and molecular genetic features of this disorder. Fourteen children with migrating partial seizures of infancy were reported during the 2 year study period (estimated prevalence 0.11 per 100 000 children). The study has revealed that migrating partial seizures of infancy is associated with an expanded spectrum of clinical features (including severe gut dysmotility and a movement disorder) and electrographic features including hypsarrhythmia (associated with infantile spasms) and burst suppression. We also report novel brain imaging findings including delayed myelination with white matter hyperintensity on brain magnetic resonance imaging in one-third of the cohort, and decreased N-acetyl aspartate on magnetic resonance spectroscopy. Putaminal atrophy (on both magnetic resonance imaging and at post-mortem) was evident in one patient. Additional neuropathological findings included bilateral hippocampal gliosis and neuronal loss in two patients who had post-mortem examinations. Within this cohort, we identified two patients with mutations in the newly discovered KCNT1 gene. Comparative genomic hybridization array, SCN1A testing and genetic testing for other currently known early infantile epileptic encephalopathy genes (including PLCB1 and SLC25A22) was non-informative for the rest of the cohort.

Botulinum toxin has rapidly gained wide acceptance as a treatment for focal spasticity, and is becoming more readily available. Early studies established its effectiveness, but many issues are still open for discussion. After a brief re view of the historical and scientific development of botulinum toxin as a clinical tool and an outline of previous work in the field, some important questions are discussed in the light of more recent trials.

Editor,—I read with interest the article “Imaging in scoliosis”. In addition to the radiological techniques described, I would include surface shape measurement as a simple, safe, repeatable, and clinically relevant assessment. Associated with the bony deformity there is a cosmetic problem; indeed, idiopathic scoliosis is primarily a cosmetic disorder. The first sign commonly noticed by the clinician or patient is an asymmetry of backshape, resulting from axial rotation of the spine and rib cage. Treatment is aimed at the reversal or arrest of the progression of this visible deformity as well as …

The shape of the back is an important factor in the clinical assessment of various spinal disorders, in particular scoliosis. A method of analysis of back surface shape is described which was designed to present most of the numerical parameters needed to assess the progress of the disease as it affects body shape. Measurements of back surface shape and manually marked anatomical landmarks were taken from a television/computer surface measurement system in which a plane of light was scanned over the back and from moiré topographs. The anatomical landmarks were used to define reference planes from which successive analyses were matched. Asymmetry in the transverse plane was illustrated by horizontal cross-sections and skin surface angles. The lateral deformity was shown by an estimate of the line of the vertebral bodies beneath the skin, derived by adding an extra lateral displacement to the palpated positions of the spinous processes, proportional to the rotation of the skin in the transverse plane. This model was used to estimate vertebral end-plate angles and Cobb angles. Lateral sections showed kyphosis and lordosis. Correlations of Lateral Asymmetry from the surface shape analysis with Cobb angle from X-ray measurements in three groups of patients (totalling 119 subjects) were in the range r = 0.77 to r = 0.94, p less than 0.0001. The analysis has reduced follow-up X-ray examinations at the Nuffield Orthopaedic Centre because it indicates quantitatively and with complete safety both lateral asymmetry and deformity in the transverse plane.