Guided self-help interventions for mental health disorders in children with neurological conditions: study protocol for a pilot randomised controlled

Background: Rates of mental health disorders are significantly greater in children with physical illnesses than in physically well children. Children with neurological conditions, such as epilepsy, are known to have particularly high rates of mental health disorders. Despite this, mental health problems in children with neurological conditions have remained under-recognised and under-treated in clinical settings. Evidence-based guided self-help interventions are efficacious in reducing symptoms of mental health disorders in children, but their efficacy in reducing symptoms of common mental health disorders in children with neurological conditions has not been investigated. We aim to pilot a guided self-help intervention for the treatment of mental health disorders in children with neurological conditions. Methods/design: A pilot randomised controlled trial with 18 patients with neurological conditions and mental health disorders will be conducted. Participants attending specialist neurology clinics at a National UK Children’s Hospital will be randomised to receive guided self-help for common mental health disorders or to a 12-week waiting list control. Participants in the treatment group will receive 10 sessions of guided self-help delivered over the telephone. The waiting list control group will receive the intervention after a waiting period of 12 weeks. The primary outcome measure is reduction in symptoms of mental health disorders. Exclusion criteria are limited to those at significant risk of harm to self or others, the presence of primary mental health disorder other than anxiety, depression or disruptive behaviour (e.g. psychosis, eating disorder, obsessive-compulsive disorder) or intellectual disability at a level meaning potential participants would be unable to access the intervention. The study has ethical approval from the Camden and Islington NHS Research Ethics Committee, registration number 14.LO.1353. Results will be disseminated to patients, the wider public, clinicians and researchers through publication in journals and presentation at conferences. Discussion: This is the first study to investigate guided self-help interventions for mental health problems in children with neurological conditions, a group which is currently under-represented in mental health research. The intervention is modular and adapted from an empirically supported cognitive behavioural treatment. The generalisability and broad inclusion criteria are strengths but may also lead to some weaknesses

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes

Neurometabolic disorders are markedly heterogeneous, both clinically and genetically, and are characterized by variable neurological dysfunction accompanied by suggestive neuroimaging or biochemical abnormalities. Despite early specialist input, delays in diagnosis and appropriate treatment initiation are common. Next-generation sequencing approaches still have limitations but are already enabling earlier and more efficient diagnoses in these patients. We designed a gene panel targeting 614 genes causing inborn errors of metabolism and tested its diagnostic efficacy in a paediatric cohort of 30 undiagnosed patients presenting with variable neurometabolic phenotypes. Genetic defects that could, at least partially, explain observed phenotypes were identified in 53% of cases. Where biochemical abnormalities pointing towards a particular gene defect were present, our panel identified diagnoses in 89% of patients. Phenotypes attributable to defects in more than one gene were seen in 13% of cases. The ability of in silico tools, including structure-guided prediction programmes to characterize novel missense variants were also interrogated. Our study expands the genetic, clinical and biochemical phenotypes of well-characterized (POMGNT1, TPP1) and recently identified disorders (PGAP2, ACSF3, SERAC1, AFG3L2, DPYS). Overall, our panel was accurate and efficient, demonstrating good potential for applying similar approaches to clinically and biochemically diverse neurometabolic disease cohorts

Guided Self-help Teletherapy for Behavioural Difficulties in Children with Epilepsy

Behavioural difficulties impact greatly upon quality of life for children with chronic illness and their families but are often not identified or adequately treated, possibly due to the separation of physical and mental health services. This case study describes the content and outcomes of guided self-help teletherapy for behavioural difficulties in a child with epilepsy and complex needs using an evidence-based behavioural parenting protocol delivered within a paediatric hospital setting. Behavioural difficulties and progress towards the family’s self-identified goals were monitored at each session. Validated measures of mental health and quality of life in children were completed before and after intervention and satisfaction was measured at the end of treatment. Measures demonstrated clear progress towards the family’s goals and reduction in weekly ratings of behavioural difficulties. This case demonstrates that a guided self-help teletherapy approach delivered from within the paediatric setting may be one way of meeting unmet need

Inborn errors of metabolism causing epilepsy.

Seizures may be the first and the major presenting feature of an inborn error of metabolism (IEM), for example in a neonate with pyridoxine-dependent epilepsy. In other IEMs, seizures may be preceded by other major symptoms: by a reduced level of consciousness in a child with an organic acidaemia or urea cycle defect; or by loss of skills, progressive weakness, ataxia, and upper motor signs in a child with a lysosomal storage disorder or peroxisomal leukodystrophy. This review concentrates on those IEMs for which specific treatment is available. The common metabolic causes of seizures vary according to the age at presentation. Features from the history, examination, imaging, and first line biochemical investigations can all provide clues to an inborn error. This review attempts to delineate these and to provide a guide to the specific tests that can be used to make the diagnosis of disorders with specific treatment

Pre- and postsurgical cognitive trajectories and quantitative MRI changes in Rasmussen syndrome

OBJECTIVE: To quantify the longitudinal cognitive trajectory, before and after surgery, of Rasmussen syndrome (RS), a rare disease characterized by focal epilepsy and progressive atrophy of one cerebral hemisphere. METHOD: Thirty-two patients (mean age = 6.7 years; 17 male, 16 left hemispheres affected) were identified from hospital records. The changes in intelligence scores during 2 important phases in the patients' journey to treatment were investigated: (1) during the preoperative period (n = 28, mean follow-up 3.4 years) and (2) from before to after surgery (n = 21 patients, mean time to follow-up 1.5 years). A volumetric magnetic resonance imaging (MRI) analysis of longitudinal changes in gray matter volume was conducted in a subsample of 18 patients. RESULTS: (1) IQ during the preoperative period: At baseline assessment (on average 2.4 years after seizure onset), the left RS group had lower verbal than nonverbal intellectual abilities, whereas the right group exhibited more difficulties in nonverbal than verbal intellect. Verbal and nonverbal scores declined during the follow-up in both groups, irrespective of the affected side. Hemispheric gray matter volumes declined over time in both groups in affected as well as unaffected hemispheres. (2) Postoperative IQ change: The left surgery group declined further in verbal and nonverbal intellect. The right group's nonverbal intellect declined after surgery, whereas verbal abilities did not. Patients with higher abilities preoperatively experienced large declines, whereas those with poorer abilities showed little change. Postoperative seizures negatively impacted on cognitive abilities. SIGNIFICANCE: During the chronic phase of the disease, parallel decline of verbal and nonverbal abilities suggest progressive bilateral hemispheric involvement, supported by evidence from MRI morphometry. Postsurgical cognitive losses are predicted by greater presurgical ability and continuing seizures. A shorter duration from seizure onset to surgery could reduce the postoperative cognitive burden by minimizing the decline in functions supported by the unaffected hemisphere

Focal epilepsy in SCN1A-mutation carrying patients: is there a role for epilepsy surgery?

Variants in the gene SCN1A are a common genetic cause for a wide range of epilepsy phenotypes ranging from febrile seizures to Dravet syndrome. Focal onset seizures and structural lesions can be present in these patients and the question arises whether epilepsy surgery should be considered. We report eight patients (mean age 13y 11mo [SD 8y 1mo], range 3–26y; four females, four males) with SCN1A variants, who underwent epilepsy surgery. Outcomes were variable and seemed to be directly related to the patient’s anatomo‐electroclinical epilepsy phenotype. Patients with Dravet syndrome had unfavourable outcomes, whilst patients with focal epilepsy, proven to arise from a single structural lesion, had good results. We conclude that the value of epilepsy surgery in patients with an SCN1A variant rests on two issues: understanding whether the variant is pathogenic and the patient’s anatomo‐electroclinical phenotype. Careful evaluation of epilepsy phenotype integrated with understanding the significance of genetic variants is essential in determining a patient’s suitability for epilepsy surgery. Patients with focal onset epilepsy may benefit from epilepsy surgery, whereas those with Dravet syndrome do not

Assessing feasibility of routine identification tools for mental health disorder in neurology clinics

Objective We aimed to test the feasibility of using an online parent-completed diagnostic assessment for detecting common mental health disorders in children attending neurology clinics. The assessment does not require intervention by a mental health professional or additional time in the clinic appointment. Setting Two parallel and related screening studies were undertaken: Study 1: Tertiary paediatric neurology clinics Study 2: Secondary and tertiary paediatric neurology clinics Patients Study 1: 406 Young people aged 7-18 attending paediatric neurology clinics Study 2: 225 Young people aged 3-18 attending paediatric epilepsy clinics Interventions Parents completed online versions of the Strengths and Difficulties Questionnaire (SDQ) and Development and Wellbeing Assessment (DAWBA). Main outcome measures We investigated: the willingness of families to complete the measures, proportion identified as having mental health disorders, time taken to complete the measures and acceptability to families and clinicians. Results The mean total difficulties score of those that had completed the SDQ fell in the ‘high’ and ‘very high’ ranges. 60% and 70% of the DAWBAS completed met criteria for at least one DSM-IV disorder in study 1 and 2 respectively. 98% of the parents reported that the screening methods used were acceptable. Conclusions: Use of an online, automated screening process is a feasible method of detecting mental health disorders in children with chronic illnesses whilst minimising burden on families and clinicians. The process was highly acceptable to families who completed the full screening process and could provide a viable option of integrating mental health assessment into routine paediatric care

Optimising Evidence-Based Psychological Treatment for the Mental Health Needs of Children with Epilepsy: Principles and Methods

There are potent evidence-based psychological treatments for youth with mental health needs, yet they are rarely implemented in clinical practice, especially for youth with mental health disorders in the context of chronic physical illness such as epilepsy. Implementation science, the study of the translation of research into practice, can promote the uptake of existing effective interventions in routine clinical practice and aid the sustainable integration of psychological treatments with routine health care. The aim of this report was to use four implementation science methods to develop a version of an existing effective psychological treatment for mental health disorders [the Modular Approach to Treatment of Children with Anxiety, Depression or Conduct Problems (MATCH-ADTC)] for use within paediatric epilepsy services: (a) literature search; (b) iterative focus groups underpinned by normalisation process theory; (c) Plan-Do-Study-Act methods; and (d) qualitative patient interviews. Findings: Three modifications were deemed necessary to facilitate implementation in children with both mental health disorders and epilepsy. These were (a) a universal brief psychoeducational component addressing the relationship between epilepsy and mental health; (b) supplementary, conditionally activated interventions addressing stigma, parental mental health and the transition to adulthood; and (c) additional training and supervision. The intervention needed relatively little alteration for implementation in paediatric epilepsy services. The modified treatment reflected the scientific literature and the views of clinicians and service users. The multi-method approach used in this report can serve as a model for implementation of evidence-based psychological treatments for children with mental health needs in the context of other chronic illnesses

Guided self-help for mental health disorders in children and young people with chronic neurological conditions: A qualitative evaluation

Objective: Children with neurological conditions such as epilepsy are at high risk of developing mental health disorders. Guided self-help can be used to increase access to psychological therapies. When developing and evaluating interventions, it is important to obtain the views of service-users about their acceptability. A telephone-guided self-help intervention was used to treat common mental health difficulties in children and young people with neurological conditions. The intervention was not adapted in content to account for chronic illness. This study therefore reports on qualitative interviews with participants to determine the acceptability of the intervention. // Methods: Semi-structured interviews were conducted with 27 participants (25 parents and 2 young people) who had undertaken a telephone-delivered guided self-help intervention for common mental health difficulties in the context of a paediatric neurological condition. Transcripts were analysed thematically using the framework approach. // Results: Thirteen themes were extracted, organised into three main domains, which covered: the practicalities of telephone guided self-help treatment; the outcomes of the intervention; and the extent to which adaptation was needed for chronic illness. Most families found the intervention helpful in working towards their specific goals and noticed changes for the child and/or parents and family. // Conclusions: Participants had a positive experience of the intervention and the majority of parents found the standard intervention with individualised goals sufficient to meet the young person's mental health needs

Diagnostic algorithm for children presenting with epilepsia partialis continua

Objective: To characterize a cohort of children with epilepsia partialis continua (EPC) and develop a diagnostic algorithm incorporating key differential diagnoses. / Methods: Children presenting with EPC to a tertiary pediatric neurology center between 2002 and 2019 were characterized. / Results: Fifty‐four children fulfilled EPC criteria. Median age at onset was 7 years (range 0.6‐15), with median follow‐up of 4.3 years (range 0.2‐16). The diagnosis was Rasmussen encephalitis (RE) in 30 of 54 (56%), a mitochondrial disorder in 12 of 54 (22.2%), and magnetic resonance imaging (MRI) lesion‐positive focal epilepsy in 6 of 54 (11.1%). No diagnosis was made in 5 of 54 (9%). Children with mitochondrial disorders developed EPC earlier; each additional year at presentation reduced the odds of a mitochondrial diagnosis by 26% (P = .02). Preceding developmental concerns (odds ratio [OR] 22, P < .001), no seizures prior to EPC (OR 22, P < .001), bilateral slowing on electroencephalogram (EEG) (OR 26, P < .001), and increased cerebrospinal fluid (CSF) protein level (OR 16) predicted a mitochondrial disorder. Asymmetry or hemiatrophy was evident on MRI at presentation with EPC in 18 of 30 (60%) children with RE, and in the remainder at a median of 6 months (range 3‐15) after EPC onset. The first diagnostic test is brain MRI. Hemiatrophy may permit a diagnosis of RE with unilateral clinical and EEG findings. For children in whom a diagnosis of RE cannot be made on first scan but the clinical and radiological presentation resembles RE, repeat imaging every 6 months is recommended to detect progressive unicortical hemiatrophy, and brain biopsy should be considered. Evidence of intrathecal inflammation (oligoclonal bands and raised neopterin) can be supportive. In children with bihemispheric EPC, rapid polymerase gamma testing is recommended and if negative, sequencing mtDNA and whole‐exome sequencing on blood‐derived DNA should be performed. / Significance: Children presenting with EPC due to a mitochondrial disorder show clinical features distinguishing them from RE and structural epilepsies. A diagnostic algorithm for children with EPC will allow targeted investigation and timely diagnosis