Health care utilisation and education outcomes of children with rare diseases: a born in Bradford cohort study.

The purpose of this study is to describe the burden of health care utilisation and early education outcomes of children with and without rare diseases. Using the Born in Bradford birth cohort and its linked routine health care and education data, we looked at cumulative primary care episodes, hospital admissions and medication prescriptions. We assessed education outcomes using Early Years Foundation Stage Profile and the National Curriculum Tests-Key Stage 1 results. Among analytical sample of 13,858, 1711 or 12.3% children were identified with a rare disease by an average age of 14 years. Children with rare diseases were twice more likely to be admitted to hospital compared to children without. Average length of stay was around 5 days in those with rare diseases group compared to less than 1 day in those without. The average number of primary care episodes was 45.4 in children with rare diseases and 28.2 visits in those without. These children were over three times more likely to be on multiple medications. Children with rare diseases had 30% higher risk of being below academic expectations at Foundation Year and, depending on subject, between 50 and 60% higher risks at KS1 tests.  Conclusions: Children with rare diseases are significantly more likely to have increased primary care episodes and to have more regular medications. They are likely to have more hospital admissions with a longer stay also. Educationally, they are at higher risk of failing to achieve expected standards in early-year settings. What is Known: • Existing studies of rare diseases have used cross sectional data to describe secondary care data. Previous research has not explored the impact of rare diseases on academic outcomes in children. What is New: • Using Born in Bradford birth cohort and its linked primary and secondary care data, this study provides the most comprehensive estimate of prevalence of rare diseases in any study to date. Children with rare diseases were not only significantly more likely to have contact with primary care and to be admitted to hospitals; they were also more like to be on more regular medications and had higher risk of not achieving expected standards in early-year education outcomes. • Our study is unusual in being able to access linked health and education data and reinforces the importance of adopting a whole system approach to children's health and wellbeing that recognises the close links between health and education.

Quality of life after selective dorsal rhizotomy: an assessment of family-reported outcomes using the CPQoL questionnaire.

BACKGROUND: Selective dorsal rhizotomy (SDR) is widely accepted as an effective procedure for management of lower limb spasticity in children with cerebral palsy. However, effects of the procedure on quality of life are not widely reported and less so using a structured and validated quality of life tool such as Cerebral Palsy Quality of Life Questionnaire (CPQoL). Here, we present complete data for CPQoL outcomes for SDR patients operated in a single institution at 2 years follow-up. METHODS: Patients were operated over a 5-year period by the same surgeon using the same technique in a single institution. CPQoL questionnaires were completed by patients and families pre-operatively and at 6 months, 1 year and 2 years post-operatively. Data was collected prospectively. RESULTS: A total of 78 patients (58 male, 20 female), age range 2.6-13.8 years (median 6.33) were included whom underwent SDR between October 2012-November 2017. All had complete follow-up up to 2 years post-procedure (most recent November 2019). Four patients were excluded due to incomplete follow-up data. Statistically significant improvement was seen across five out of seven CPQoL domains and this was sustained to 2 years post-SDR. CONCLUSIONS: We demonstrate using a validated Quality of Life Tool that SDR has a beneficial effect on the quality of life for patients with cerebral palsy at this length of follow-up.

Interventions for managing weight change following paediatric acquired brain injury: a systematic review.

OBJECTIVE: To systematically review literature reporting interventions for weight change following paediatric acquired brain injury (ABI). METHOD: A systematic search of the literature was conducted using advanced search techniques. The retrieval identified 1562 papers, of which 30 were relevant. The total number of paediatric participants was 759. RESULTS: There is a paucity of higher quality evidence to support the use of weight change interventions following paediatric ABI. Substantial variation in screening, outcome measures, intervention, and reporting were demonstrated. Some support was found for the use of hypothalamic-sparing surgery as a method to prevent obesity following craniopharyngioma resection. INTERPRETATION: There is a need for further study in this area to inform clinical and research practice; recommendations are given.

Mortality, morbidity and educational outcomes in children of consanguineous parents in the Born in Bradford cohort.

Background: Children of consanguineous parents have a higher risk of infant and childhood mortality, morbidity and intellectual and developmental disability. Methods: Using a UK based longitudinal cohort study we quantify differences according to the consanguinity status of children from birth to 10 in mortality, health care usage, two health and three educational outcomes. The cohort comprises 13727 children; 35.7% White British, 43.7% Pakistani heritage, and 20.8% are from other ethnic groups. Results: Compared to children whose parents were not related children whose parents were first cousins were more likely to die by age 10 (odds ratio 2.81, 95% CI 1.82-4.35) to have higher rates of primary care appointments (incident rate ratio 1.39, 95% CI 1.34-1.45) and more prescriptions (incident rate ratio 1.61, 95% CI 1.50-1.73). Rates of hospital accident and emergency attendance (incident rate ratio 1.21,95% CI 1.12-1.30) and hospital outpatients' appointments (incident rate ratio 2.21,95% CI 1.90-2.56) are higher. Children of first cousins have higher rates of speech/ language development difficulties (odds ratio 1.63, 95% CI 1.36-1.96) and learning difficulties (odds ratio 1.89, 95% CI 1.28-2.81). When they begin school they are less likely to reach phonics standards (odds ratio 0.73, 95% CI 0.63-0.84) and less likely to show a good level of development (odds ratio 0.61, 95% CI 0.54-0.68). At age 10 there are higher numbers with special educational needs from first cousin unions compared to all children whose parents are not blood relations (odds ratio 1.38, 95% CI 1.20-1.58). Effect sizes for consanguinity status are similar in univariable and multivariable models where a range of control variables are added. Conclusions: There is higher childhood mortality and greater use of health care as well as higher rates of learning difficulties, speech and language development challenges and substantive differences in education outcomes in children whose parents are first cousins.

The use of intrathecal baclofen for management of spasticity in hereditary spastic paraparesis: A case series.

Hereditary Spastic Paraparesis (HSP) causes lower limb spasticity, pain and limits ambulation resulting in a negative impact on an individual's quality of life. This case series evaluates the use of Intra-thecal Baclofen (ITB) on 5 ambulant children with HSP. Our results suggest ITB is associated with a reduction in spasticity and a trend towards improvement in patient-reported quality of life and achievement of personalised goals. This was evidenced with lower Modified Ashworth Scale (MAS) scores and increasing values using the Cerebral Palsy Quality of Life (CPQoL) tool and Goal Attainment Scale (GAS). ITB was not associated with any major immediate or longer-term adverse effects. Overall, our study supports the role of ITB, used in a goal-directed manner, in the management of children and young people with HSP where other standard treatment options have been unsuccessful.

Intrathecal baclofen pumps in the management of hypertonia in childhood: a UK and Ireland wide survey.

BACKGROUND: Intrathecal baclofen (ITB) is a useful treatment for hypertonia where non-invasive treatments have been ineffective or poorly tolerated. There is an absence of national guidance on selection criteria and a lack of literature regarding patient characteristics and treatment details for children and young people (CYP) receiving ITB therapy in the UK and Ireland. We aimed to gather patient and treatment characteristics for CYP receiving ITB in the UK and Ireland. METHODS: An electronic survey was sent to all paediatric ITB centres in the UK and Ireland. Anonymised data were returned between December 2019 and April 2020. CYP >16 years and those awaiting ITB pump removal were excluded from the dataset. RESULTS: 176 CYP were identified as receiving ITB therapy across the UK and Ireland. The majority of CYP with ITB pumps were non-ambulant (93%) with a diagnosis of cerebral palsy (79%). Median age of ITB insertion was 9 years; median current age was 14 years. 79% of CYP had significant spasticity, 55% had significant dystonia. The most commonly used ITB dosing modes were continuous (73%) and flexible (23%). CONCLUSIONS: ITB pumps were most frequently used for non-ambulant CYP with cerebral palsy and existence of spasticity and/or dystonia in the UK and Ireland. Most CYP were receiving a continuous dose of ITB. There is significant variation in the number of paediatric ITB pumps across UK and Ireland. There is a need for development of nationally accepted paediatric referral criteria and clinical standards for ITB use.

Interventions to improve outcomes in children and young people with unresponsive wakefulness syndrome following acquired brain injury: A systematic review.

Unresponsive wakefulness syndrome (UWS) is a disorder of consciousness (DoC) which describes a state of wakefulness without evidence of self or environmental awareness, or interaction. There is currently no universally accepted evidence-based intervention for the treatment of UWS. This systematic review aimed to identify interventions to improve functioning in children and young people (0-25 years) with UWS following acquired brain injury (ABI). A systematic review of electronic databases was conducted, consisting of CINAHL, EMBASE, Medline, PsycINFO, PubMed, Cochrane Library, Scopus and Google Scholar. Eight studies met inclusion criteria. In these studies, the outcomes of interventions which aimed to improve quality of life, functional outcomes and/or increases in level of consciousness of paediatric patients in UWS were reported. Retrieved studies presented some evidence for improved consciousness and functional outcomes, following multi-component neurorehabilitation programmes, sensory stimulation or pharmacological interventions. Quality appraisal, using a modified version of the Downs and Black (1998) checklist, revealed risk of bias in a number of sources, including insufficient control over confounding variables, the use of inadequately validated outcome measures and concerns regarding diagnostic accuracy. More robust research is needed to adequately determine which interventions are most valuable at improving outcomes in paediatric UWS and to provide an improved evidence base for clinicians to draw upon when selecting treatment for patients.

Pharmacological management of abnormal tone and movement in cerebral palsy.

BACKGROUND: The evidence base to guide the pharmacological management of tone and abnormal movements in cerebral palsy (CP) is limited, as is an understanding of routine clinical practice in the UK. We aimed to establish details of motor phenotype and current pharmacological management of a representative cohort across a network of UK tertiary centres. METHODS: Prospective multicentre review of specialist motor disorder clinics at nine UK centres, collecting data on clinical features and pharmacological management of children and young people (CYP) with CP over a single calendar month. RESULTS: Data were collected from 275 CYP with CP reviewed over the calendar month of October 2017. Isolated dystonia or spasticity was infrequently seen, with a mixed picture of dystonia and spasticity ± choreoathetosis identified in 194/275 (70.5%) of CYP. A comorbid diagnosis of epilepsy was present in 103/275 (37.4%). The most commonly used medications for abnormal tone/movement were baclofen, trihexyphenidyl, gabapentin, diazepam and clonidine. Medication use appeared to be influenced separately by the presence of dystonia or spasticity. Botulinum toxin use was common (62.2%). A smaller proportion of children (12.4%) had undergone a previous neurosurgical procedure for tone/movement management. CONCLUSIONS: CYP with CP frequently present with a complex movement phenotype and comorbid epilepsy. They have multiple therapy, medical and surgical management regimens. Future trials of therapeutic, pharmacological or surgical interventions in this population must adequately encompass this complexity in order to be translatable to clinical practice.

Improving access to pediatric neurorehabilitation for patients with moderate and severe head injuries.

INTRODUCTION: The majority of severely injured children in England have a significant head injury and will be seen in Major Trauma Centers (MTCs). The period following brain injury represents an opportunity to influence recovery of neurological function. The study sought to determine whether children who had sustained a head injury were referred for neurorehabilitation. METHOD: The study was conducted over one year at one center. Children sustaining a moderate or severe head injury were identified and compared to those referred for neurorehabilitation. RESULTS: A total of 41 patients were identified; 16/41 (39%) were referred for neurorehabilitation. Group comparison revealed significant associations between referral status and age (X2(3) = 8.35, p = 0.039), injury mechanism (X2(1) = 8.12, p = 0.017), injury severity (X2(1) = 21.3, p < 0.000), and imaging findings (X2(1) = 11.71, p = 0.001). DISCUSSION: Data reveal concerns for access to neurorehabilitation. Improved access to neurorehabilitation permitting long-term follow-up is required. The establishment of MTCs provides an opportunity to enact this.

Speech and language delay in two children: an unusual presentation of hyperthyroidism.

BACKGROUND: Hyperthyroidism is rare in pre-school children. Untreated, it can have a profound effect on normal growth and development, particularly in the first 2 years of life. Although neurological manifestations of dysthyroid states are well known, specific expressive speech and language disorder as a presentation of hyperthyroidism is rarely documented. METHODS: Case reports of two children with hyperthyroidism presenting with speech and language delay. RESULTS: We report two pre-school children with hyperthyroidism, who presented with expressive speech and language delay, and demonstrated a significant improvement in their language skills following treatment with anti-thyroid medication. CONCLUSIONS: Hyperthyroidism must be considered in all children presenting with speech and language difficulties, particularly expressive speech delay. Prompt recognition and early treatment are likely to improve outcome.