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Cerebral palsy (CP) is a broad diagnosis unbound by aetiology and is based on a clinical examination demonstrating abnormalities of movement or posture. CP represents a static neurological condition, provided that neurodegenerative conditions, leukoencephalopathies and neuromuscular disorders are excluded. In paediatrics, the genetic conditions associated with CP are rapidly increasing, with primary and overlapping neurodevelopmental conditions perhaps better categorised by the predominant clinical feature such as CP, intellectual disability, autism spectrum disorder or epilepsy. Progress in molecular genetics may challenge what constitutes CP, but a genetic diagnosis does not negate the CP diagnosis. As clinicians working in the field, we discuss the changing tide of CP. Neuroimaging provides essential information through pattern recognition and demonstration of static brain changes. We present examples of children where a layered clinical diagnosis or dual aetiologies are appropriate. We also present examples of children with genetic causes of CP to highlight the challenges and limitations of neuroimaging to provide an aetiological diagnosis. In consultation with a geneticist, access to genomic testing (exome or genome sequencing) is now available in Australia under Medicare billing for children under the age of 10 with dysmorphic features, one or more major structural organ anomalies, (an evolving) intellectual disability or global developmental delay. We encourage the uptake of genomic testing in CP, because it can be difficult to tell whether a child has an environmental or genetic cause for CP. A specific genetic diagnosis may change patient management, reduce guilt and enable more distinctive research in the future to assist with understanding disease mechanisms.

Neuromuscular scoliosis is a common feature in children with severe neurological impairment (SNI), including those with severe cerebral palsy. Surgical correction of scoliosis is the mainstay of treatment. This group of patients also have associated medical complexity. The complication rates post-surgery are high, although, for many, they are worth the risk. There are currently no published practice guidelines or care pathways for children with SNI who are undergoing scoliosis corrective surgery. In response to the high uptake of this surgery, coupled with the expected complication rates, our hospital established a perioperative clinic. The purpose of this paper is to describe our perioperative approach. This clinic has developed into a service beyond perioperative care and, with the collaborative meeting, enables shared decision-making to identify the right candidate for surgery. The process involves surgical expertise, understanding the family and child at the centre, and optimisation of medical care pre- and post-surgery. In this paper, we describe the process in a step-by-step manner. We provide clinical vignettes, as well as the proformas that we use, and we highlight the benefits of the team-based process.

Background Respiratory disease is a leading cause of hospitalizations and deaths in young people with cerebral palsy (CP). It is insidious and multifactorial. Clinical management can be complex. This systematic review describes effects of interventions for the prevention and management of respiratory disease in young people with CP. Methods Nine databases (Cochrane, CINAHL, Embase, EMCare, MEDLINE, PEDro, OpenGrey, ScienceDirect, and SpeechBITE) were searched. Eligibility criteria were as follows: the population included at least 50% individuals with CP aged under 26 years, the intervention was for chronic respiratory illness, the outcomes were any measurable indicators of respiratory health or morbidity; the study design could be any original study reporting effects of an intervention on measurable outcomes, and the study was published January 1998 or later. The American Academy for Cerebral Palsy and Developmental Medicine methodology guided study appraisal and synthesis. The review was registered with PROSPERO (reference number CRD42018086314). Results The search yielded 3,347 papers; 37 papers (reporting 34 studies) of these met the eligibility criteria. They included 582 participants with CP (ranging from 1 to 77 across studies) with ages from 5 months to 25 years. Interventions were diverse and included: airway clearance techniques, exercise, positioning, mealtime management, salivary management, upper airway interventions, antibiotics, gastro-intestinal interventions, and spinal surgery. There were no interventions aimed at prevention of respiratory disease in this population. Research designs were classified as Levels 2 (n = 3), 3 (n = 2), 4 (n = 25), and 5 (n = 4). Conclusions Evidence for most respiratory interventions for young people with CP is absent or weak. No controlled trials demonstrated significant effects on respiratory morbidity, owing to their scarcity, weak designs, and inadequate power. There is an urgent need for well-designed prospective controlled studies investigating prevention and management of respiratory disease in young people with CP.

Aim To determine the prevalence of long‐term mechanical insufflation‐exsufflation (MI‐E) and concomitant mechanical ventilation in children with neurological conditions, with reported reasons behind the initiation of treatment. Method This was a population‐based, cross‐sectional study using Norwegian national registries and a questionnaire. Results In total, 114 of 19 264 children with a neurological condition had an MI‐E device. Seventy‐three of 103 eligible children (31 females, 42 males), median (min–max) age of 10 years 1 month (1y 5mo–17y 10mo), reported their MI‐E treatment initiation. Overall, 76% reported airway clearance as the main reason to start long‐term MI‐E. A prophylactic use was mainly reported by children with neuromuscular disorders (NMDs). Prevalence and age at initiation differed by diagnosis. In spinal muscular atrophy and muscular dystrophies, MI‐E use was reported in 34% and 7% of children, of whom 83% and 57% respectively received ventilator support. One‐third of the MI‐E users were children with central nervous system (CNS) conditions, such as cerebral palsy and degenerative disorders, and ventilator support was provided in 31%. The overall use of concomitant ventilatory support among the long‐term MI‐E users was 56%. Interpretation The prevalence of MI‐E in a neuropaediatric population was 6 per 1000, with two‐thirds having NMDs and one‐third having conditions of the CNS. The decision to initiate MI‐E in children with neurological conditions relies on clinical judgment. What this paper adds The prevalence and age at initiation of mechanical insufflation/exsufflation (MI‐E) differed between diagnoses.MI‐E was most commonly used in spinal muscular atrophy, where it generally coincided with ventilatory support.One‐third of MI‐E devices were given to children with central nervous system conditions, and one‐third also received ventilatory support., What this paper adds The prevalence and age at initiation of mechanical insufflation/exsufflation (MI‐E) differed between diagnoses.MI‐E was most commonly used in spinal muscular atrophy, where it generally coincided with ventilatory support.One‐third of MI‐E devices were given to children with central nervous system conditions, and one‐third also received ventilatory support. This article is commented on by Langdon and Cooper on pages 494–495 of this issue.