Youth engagement in mental health research: A systematic review.

INTRODUCTION: Patient engagement in youth mental health research has the potential to inform research on the interventions, services and policies that will benefit youth. At present, there is little evidence to guide mental health researchers on youth engagement. This systematic review aims to describe the impacts of youth engagement on mental health research and to summarize youth engagement in mental health research. METHODS: We searched the following databases: MEDLINE, EMBASE and PsycINFO, using a combination of subject headings, keywords and synonyms for the concepts 'patient engagement', 'youth' and 'mental health'. Articles that described engaging youth in mental health research were included. Two reviewers performed the study selection. Study characteristics, research activities performed by youth, impacts of youth engagement, challenges, and facilitators to engagement and recommendations for youth engagement described by authors were extracted. Quality appraisal involved determining the level of engagement of youth and the stage(s) of research where youth were involved. RESULTS: The database search returned 2836 citations, 151 full-text articles were screened and 16 articles, representing 14 studies, were selected for inclusion. Youth were involved at nearly all stages of the research cycle, in either advisory or co-production roles. Youth engagement impacts included enhancing relevant research findings, data collection and analysis and dissemination to academic and stakeholder audiences. Both youth and academic researchers reported personal development across many domains. One negative impact reported was the increase in funding and resources needed for engagement. We produced a list of 35 recommendations under the headings of training, youth researcher composition, strategy, expectations, relationships, meeting approaches and engagement conditions. CONCLUSIONS: This study provides an understanding of the impacts and recommendations of youth engagement in mental health research. The findings from this study may encourage researchers to engage youth in their mental health research and support youth engagement in funding applications. PATIENT AND PUBLIC CONTRIBUTION: We consulted three youths with experience being engaged in mental health research about the review findings and the discussion. One youth designed a visual representation of the results and provided feedback on the manuscript. All youth's input informed the way the findings were presented and the focus of the discussion.

Homozygous Mutations in Thyroid Peroxidase (TPO) in Hypothyroidism with Intellectual Disability, Developmental Delay, and Hearing and Ocular Anomalies in Two Families: Severe Manifestation of Untreated TPO-deficiency Poses a Diagnostic Dilemma.

Intellectual disability (ID) involves compromised intellectual, learning and cognitive skills, and behavioral capabilities with reduced psychomotor skills. One of the preventable causes of ID is congenital hypothyroidism (CH), which may be due to biallelic mutations in thyroid peroxidase (TPO). In low- and middle-income countries with no newborn screening programs, CH poses a great risk of ID and long-term morbidity. We report two large Pakistani families with a total of 16 patients afflicted with CH. Detailed clinical and behavioral assessments, SNP-based homozygosity mapping, linkage analysis, and exome sequencing were performed. Initially, affected individuals were referred as suffering ID (in 11 of 16 patients) and developmental delay (in 14). Secondary/associated features were verbal apraxia (in 13), goiter (in 12), short stature (in 11), limb hypotonia (in 14), no pubertal onset (five of 10 of age ≥14 years), high myopia (in eight), muscle cramps (in six), and in some, variable microcephaly and enuresis/encopresis, fits, chronic fatigue, and other behavioral symptoms, which are not characteristics of CH. Molecular genetic analyses led to the discovery of homozygous variants in TPO: novel missense variant c.719A>G (p.Asp240Gly) in family 1 and rare c.2315A>G (p.Tyr772Cys) in family 2. In low-resource countries where neonatal screening programs do not include a CH test, the burden of neurodevelopmental disorders is likely to be increased due to untreated CH. Secondly, in the background of the high prevalence of recessive disorders due to high parental consanguinity, the severe manifestation of TPO-deficiency mimics a wide range of neurological and other presentations posing a diagnostic dilemma.

Burden of Congenital and Hereditary Anomalies in Hazara Population of Khyber Pakhtunkhwa, Pakistan.

Background and Objectives: In Pakistan, there is high incidence of congenital and hereditary anomalies (CA) which are a leading cause of infant mortality and morbidity. In order to elucidate the burden and biodemographic correlates of CA, this study was aimed to report the prevalence-pattern and phenotypic attributes of CA in the Hazara population of Khyber Pakhtunkhwa, Pakistan. Methods: In a retrospective cross-sectional study, subjects/families with CA were recruited from district hospitals and community centers. Phenotypic and descriptive data were obtained; pedigrees were analyzed and parental and biodemographic attributes were recorded. Results: A total of 1,189 independent subjects and/or families with CA were ascertained. The malformations were grouped into nine major and 95 minor categories. Neurological disorder had the highest representation (n=486; proportion=0.409; 95% CI=0.381-0.437), followed by limb defects (n=292; proportion=0.246, 95% CI=0.221-0.270), musculoskeletal defects, sensorineural/ear defects, blood disorders, eye/visual impairments, ectodermal anomalies, and congenital heart defects. In this cohort, sporadic cases were 65% and familial 35%. Parental consanguinity was significantly higher in isolated cases compared to syndromic, and in familial cases compared to sporadic. Further, speech apraxia and epilepsy were most common associations among the syndromic cases. The assessment of variables like demography, parental consanguinity, familial/sporadic nature, and pedigree structures showed conspicuous heterogeneity among the major and minor categories of CA. Conclusions: The trend of CA and high incidence of sporadic cases observed in this cohort indicate that nongenetic factors may play a significant role in their etiology which could be minimized by improving the healthcare system.

Study of non-syndromic thumb aplasia in six independent cases.

OBJECTIVES: To report on six independent and isolated cases demonstrating thumb aplasia as an essentially limb-specific phenotype. METHODS: The subjects were ascertained during 2011-2013 from six different geographic regions of Pakistan, and underwent detailed clinical and phenotypic examination. RESULTS: The affected arms of patients had complete absence of first digital rays, medial inclinations of second and fifth fingers, narrowing of palms, missing carpals, and shortening of zeugopod. All the subjects were presented with isolated and sporadic limb deficiencies, and five had no family history of limb or any other malformation. Parental consanguinity was denied in majority of the cases. We present detailed phenotypic manifestation of thumb apalsia in these subjects. CONCLUSION: Thumb aplasia markedly impairs the normal function of affected hand. Surgical procedures like pollicisation of the index finger should be employed to improve the quality of life of these subjects. There is so far no specific genetic factor known for isolated thumb aplasia, compromising an accurate genetic counseling. Collection of patients with similar phenotypic presentations could be useful in further molecular genetic investigations.

Patient & Caregiver Experiences: Qualitative Study Comparison Before and After Implementation of Early Palliative Care for Advanced Colorectal Cancer.

BACKGROUND: The Palliative Care Early and Systematic (PaCES) program implemented an early palliative care pathway for advanced colorectal cancer patients in January 2019, to increase specialist palliative care consultation and palliative homecare referrals more than three months before death. This study aimed to understand the experience of patients with advanced colorectal cancer and family caregivers who received early palliative care supports from a specialist palliative care nurse and compared those experiences with participants who experienced standard oncology care prior to implementation of early palliative care. METHODS: This was a qualitative and patient-oriented study. We conducted semi-structured telephone interviews with two cohorts of patients with advanced colorectal cancer before and after implementation of an early palliative care pathway. We conducted a thematic analysis of the transcripts guided by a Person-Centred Care Framework. RESULTS: Seven patients living with advanced colorectal cancer and five family caregivers who received early palliative care supports expressed that visits from their early palliative care nurse was helpful, improved their understanding of palliative care, and improved their care. Four main themes shaped their experience of early palliative care: care coordination, perception of palliative care & advance care planning, coping with advanced cancer, and patient and family engagement. These findings were compared with experiences of 15 patients and seven caregivers prior to pathway implementation. CONCLUSION: An early palliative care pathway can improve advanced cancer care, and improve understanding and acceptance of early palliative care. This work was conducted in the context of colorectal cancer but may have relevance for the care of other advanced cancers.

Patient-reported outcome measures used to improve youth mental health services: a systematic review.

BACKGROUND: Patient-reported outcome measures (PROMs) are standardized and validated self-administered questionnaires that assess whether healthcare interventions and practices improve patients' health and quality of life. PROMs are commonly implemented in children and youth mental health services, as they increasingly emphasize patient-centered care. The objective of this study was to identify and describe the PROMs that are currently in use with children and youth living with mental health conditions (MHCs). METHODS: Three databases (MEDLINE, EMBASE, and PsycINFO) were systematically searched that used PROMs with children and youth < 18 years of age living with at least one diagnosed MHC. All methods were noted according to Preferred Reporting Items for Systematic reviews and Meta-Analysis. Four independent reviewers extracted data, which included study characteristics (country, year), setting, the type of MHC under investigation, how the PROMs were used, type of respondent, number of items, domain descriptors, and the psychometric properties. RESULTS: Of the 5004 articles returned by the electronic search, 34 full-texts were included in this review. This review identified both generic and disease-specific PROMs, and of the 28 measures identified, 13 were generic, two were generic preference-based, and 13 were disease-specific. CONCLUSION: This review shows there is a diverse array of PROMs used in children and youth living with MHCs. Integrating PROMs into the routine clinical care of youth living with MHCs could improve the mental health of youth. Further research on how relevant these PROMs are children and youth with mental health conditions will help establish more uniformity in the use of PROMs for this population.

A Two-Base Pair Deletion in IQ Repeats in ASPM Underlies Microcephaly in a Pakistani Family.

Aims: Autosomal recessive primary microcephaly (MCPH) is a clinically rare and genetically highly heterogeneous developmental disorder. Biallelic variants in the abnormal spindle-like microcephaly-associated (ASPM) gene account for 40% to 68% of all MCPH cases. This study was designed to elucidate the genetic basis of MCPH in an extended family. To highlight recurrent mutations useful in implementing genetic testing programs, we further aimed to carry out a descriptive review of the reported ASPM mutations. Materials and Methods: A large inbred kindred with seven affected members was investigated, and detailed clinical and behavioral assessments were carried out. Single nucleotide polymorphism (SNP)-based homozygosity mapping and exome sequencing were performed. Results: Affected individuals had characteristic features, including small head, receding forehead, mild to moderate intellectual disability, developmental delay, short stature, apraxia, and behavioral anomalies. We mapped the disease gene locus and detected a rare frameshift deletion c.6854_6855del (p.(Leu2285GlnfsTer32)) in exon 18 of ASPM. A total of 215 mutations in ASPM have been reported in at least 453 families, nearly 50% of which are of Pakistani origin. These mutations can be classified as recurrent, founder or private in Pakistani and other populations. Conclusion: SNP-based homozygosity mapping and exome sequencing are essential in delineating the genetically distinct microcephaly types. The highlighted recurrent mutations in ASPM could be useful in implementing genetic testing programs for MCPH.

Acceptability of an Adolescent Self-Management Program for Juvenile Idiopathic Arthritis.

OBJECTIVE: The study objective was to test the acceptability of a self-management program (SMP) for adolescents with juvenile idiopathic arthritis (JIA) focused on disease information, self-management, and social support needs. METHODS: This study was conducted using inductive qualitative methods to explore the acceptability of an in-person/videoconference SMP. Two groups of four adolescents with JIA (mean age = 13.5, SD = 0.8) and two groups of pediatric rheumatology health care professionals (n = 4, n = 5) participated in four feedback sessions each. The SMP was presented to study participants, and feedback was provided on the content, format, and structure of the program. Thematic analysis was used to analyze the data. RESULTS: Adolescents felt that the content was appropriate and would be effective in supporting self-management of their arthritis. Participants advised that the trustworthiness of the information would be increased if a rheumatology health care provider facilitated the session. Potential barriers to participation included distance and availability (weekdays and times), but the option for videoconference-based participation was an appropriate solution to both of these issues. Minor changes were made to content and format, and required changes were made to address participant recommendations for improvement. CONCLUSION: This study confirmed the acceptability of an in-person/videoconference SMP for patients with JIA. Modifications were made to the SMP based on the focus group feedback, and future directions include a pilot randomized controlled trial to assess feasibility and preliminary effectiveness of the program.

Patient and caregiver experiences with advanced cancer care: a qualitative study informing the development of an early palliative care pathway.

BACKGROUND: Palliative care is an approach that improves the quality of life of patients and families facing challenges associated with life-threatening illness. In order to effectively deliver palliative care, patient and caregiver priorities need to be incorporated in advanced cancer care. AIM: This study identified experiences of patients living with advanced colorectal cancer and their caregivers to inform the development of an early palliative care pathway. DESIGN: Qualitative patient-oriented study. SETTINGS/PARTICIPANTS: Patients receiving care at two cancer centres were interviewed using semistructured telephone interviews to explore their experiences with cancer care services received prior to a new developed pathway. Interviews were transcribed verbatim, and the data were thematically analysed. RESULTS: From our study, we identified gaps in advanced cancer care that would benefit from an early palliative approach to care. 15 patients and 7 caregivers from Edmonton and Calgary were interviewed over the phone. Participants identified the following gaps in advanced cancer care: poor communication of diagnosis, lack of communication between healthcare providers, role and involvement of the family physician, lack of understanding of palliative care and advance care planning. CONCLUSIONS: Early palliative approaches to care should consider consistent and routine delivery of palliative care information, collaborations among different disciplines such as oncology, primary care and palliative care, and engagement of patients and family caregivers in the development of care pathways.