Journal of Developmental and Behavioral Pediatrics最新文献

Objective: The purpose of this study was to explore the genotypic and phenotypic presentation of males with MECP2 -related neurodevelopmental disorders. When variants in the MECP2 gene are discovered in patients, Rett syndrome becomes a possible diagnosis. Rett syndrome, however, does not encapsulate all phenotypic variations in MECP2 gene mutations, and specific diagnosis can become tricky especially in the male population as mutations in the gene were historically thought to affect females only. The authors present a rare case of a male with a previously unpublished genetic variant resulting in a distinct clinical presentation not meeting the criteria for typical or atypical Rett syndrome.

Methods: This patient's institutional electronic medical record was accessed, and information was reviewed.

Results: It was discovered that this patient had a maternally inherited variant in his MECP2 gene, resulting in a unique and previously undescribed form of MECP2 -related neurodevelopmental disorder, presenting with language regression followed by speech apraxia and motor discoordination.

Discussion/conclusion: Literature reports on various phenotypes associated with MECP2 gene mutations and elaborates on previously identified forms of typical and atypical Rett syndrome. Through this case report, the authors uncovered a pathogenic variant in MECP2 resulting in a rare phenotype of MECP2 -related neurodevelopmental disorder that has not previously been described. This should encourage clinicians to think more broadly when approaching diagnosis of children with developmental differences. This also reinforces that Rett syndrome or MECP2 mutations can often present on a spectrum, and it may be beneficial to modify diagnostic criteria to reflect this.

Objective: Although the recommended first-line treatment for attention-deficit hyperactivity disorder (ADHD) is medication, poor adherence is still common, particularly in adolescents and young adults (AYAs). This study aimed to adapt Customized Adherence Enhancement (CAE), a psychosocial intervention developed to improve medication adherence in bipolar disorder, to target AYAs with ADHD.

Methods: Phase 1 included focus groups with AYAs, caregivers, and health care providers who treat AYAs with ADHD (N = 19). Prompts included barriers and facilitators of medication adherence, impact of ADHD, and reasons treatment regimens may be difficult to maintain. Focus groups were recorded, transcribed, and thematically coded. Phase 2 included cognitive interviews with AYAs with ADHD to assess acceptability and usability of the intervention (N = 6).

Results: Main themes were AYAs' perception of ADHD and its negative impact on work, sports performance, and interpersonal relationships. Barriers of adhering to medication were limited access, physiological side effects, difficulty following medication routines, and having comorbidities. Facilitators to medication adherence were having more knowledge about ADHD, benefits from medication adherence, and using external prompts.

Conclusion: As untreated or undertreated ADHD negatively affects morbidity and functioning, intervening early and at a critical stage of development has the potential to change the long-term outcomes of AYAs with ADHD. Results informed the adaptation of an existing intervention (CAE) to target AYAs with ADHD and can be applied to adherence interventions more broadly.

Objective: Internet access is critical for reaching most modern-day resources and systems. Yet many do not have consistent access, including people with disabilities. This can have an outsized impact on children, which COVID-19 lockdowns revealed in 2020 to 2021. However, internet access for parents with disabilities and their children is not well-studied. This study aims to fill that gap.

Methods: We used 2018 to 2022 American Community Survey data. Parents are defined as adults with a co-residing minor for whom they are presumed responsible, and are classified as with or without disabilities. Outcomes include presence of any home internet access and home high-speed internet access, and were analyzed by the presence of disability and type of disability.

Results: Results from modified Poisson regression analysis reveals that disabled parents are 1.79 times as likely as nondisabled parents to not have any home internet access (p < 0.001) and 1.40 times as likely to not have home high-speed internet access (p < 0.001). Adjustment for sociodemographic factors somewhat alleviated these disparities, but even after controlling for urbanicity, poverty, program participation, and family employment status, statistically significant disparities remained for most disability subtypes. Parents with hearing disabilities were most likely to lack home internet access.

Conclusion: Among US parents, disability status is associated with lacking any home internet access and lacking home high-speed internet access. Given the importance of internet access in nearly all aspects of modern society for children and families, continued and increased support for programs that assist parents with disabilities may be an avenue for improving access.

Objective: Given rising national rates of depression, anxiety, suicidality, and trauma, and with the associated rise in screening for mental health concerns in medical settings, medical and behavioral health clinicians increasingly identify and manage mental health crises during time-limited visits. Through 2 clinical case examples, this article introduces CARE-squared , a novel approach to teaching crisis management, grounded in client support and clinician self-care, that can be used in a variety of health care settings.

Method: This article describes the need for crisis management in health care settings, reviews literature on existing Psychological First-Aid frameworks, and highlights principles of trauma-informed care. The article then introduces CARE-squared , a four-step parallel-process model of crisis management, designed to guide health care trainees' support of clients in crises while simultaneously maintaining patient alliance, de-escalating, and managing clinician stress during a crisis.

Results: Two clinical cases highlight the applicability of CARE-squared to rapid crisis management during in-person and telehealth visits.

Conclusion: CARE-squared provides a novel, parallel-process approach to support patient care and clinician wellness. It has broad applicability to clinician training and practice and potential utility for a variety of presenting concerns and health care settings.

Objective: The well-being of families is critical for health, but a family well-being metric has not yet been developed for use in federal surveys, making it impossible to assess national trends in family well-being. The National Survey for Children's Health (NSCH) includes items relating to different dimensions of family well-being. The purpose of this study was to conduct exploratory research to create an index of family well-being using items from the NSCH to examine trends in family well-being among families with children in the United States.

Methods: Using the 2016 and 2021 NSCH, we created an index of family well-being. We compared family well-being across families with children in different age groups and examined trends over time between 2016 and 2021. Finally, we examined correlations between family well-being and 6 child health outcomes (chronic headaches, diabetes, depression, anxiety, attention-deficit hyperactivity disorder (ADHD), and behavioral and conduct disorders).

Results: The final family well-being index had 10 items/constructs. Children 0 to 5 years were more likely than older children to have caregivers whose responses met criteria for most family well-being items. Between 2016 and 2021, family health remained relatively steady, but there were significant changes in 6 of the 10 family well-being index items, with some items increasing and some decreasing in 2021 compared with 2016. Family well-being was modestly correlated with all 6 children's health outcomes.

Conclusion: By having a family well-being index in federal surveys, trends in family well-being can be examined over time. Changes in children's health can also be assessed relating to family well-being.

Objective: Examine patient characteristics and practice processes associated with referrals to social and behavioral health resources in an urban/inner-city primary care pediatric practice.

Method: Retrospective chart review was conducted on Safe Environment for Every Kid (SEEK) screening and immediate and later clinician responses to positive screens (documented by the practice's early relational health specialist) from well-child visits for children 6 months to 6 years. Bivariate and multivariate analyses were used to examine associations between demographics, screening results, and referral acceptance.

Results: Of 1104 SEEK screens, 152 (13.8%) were excluded for incomplete screens and 25 (2.3%) for duplicate caregiver screens. Of 927 included, responses were discussed at the time of screening for 286 (30.9%, "immediate") and/or attempted to be discussed at a later time by phone for 397 (42.8%, "later," median 11 days [interquartile range 6-19] between screen and discussion); 14 (1.5%) had both forms of contact; and 230 (24.8%) had no documented discussion at any time. Demographics were similar across groups. Clinician discussion was more likely if caregivers reported harsh punishment ( p = 0.036), caregiver stress ( p < 0.001), or caregiver depression ( p < 0.001) on screen. After clinician discussion, referral was offered and subsequently accepted by 225 of 697 caregivers (32.3%). Each additional stressor endorsed increased odds of accepting referral by 25% (95% confidence interval, 1.07-1.47). Referrals to parenting groups, social needs navigation support, and social work were completed by 33 of 68 (48.5%) referred families.

Conclusion: Safe Environment for Every Kid screening in urban pediatric primary care can be used to identify families' unmet social and behavioral health care needs to provide support.

Objective: Examine the trajectories of speech and language delay and proficiency, risk factors contributing to outcomes, and efficacy of interventions for preterm infants from infancy to adulthood.

Method: Review the literature on speech and language outcomes of preterm infants from infancy to adulthood.

Results: Speech and language delays continue to be a common challenge among preterm-born infants, with important biological and socioenvironmental factors contributing to long-term language impairment as well as recovery. The variable preterm infant language experience in-utero, in the neonatal intensive care unit (NICU), and in the home environment plays an important role in outcomes. Evidence suggests a lasting impact of prematurity on language outcomes in early childhood through adulthood.

Conclusion: There is a need for clinician recognition and implementation of interventions that promote positive language input in the NICU and the home, combined with parent, professional, and community-based partnerships to nurture and facilitate a language-rich environment.

Objectives: The Extension for Community Healthcare Outcomes (ECHO) model has been shown to increase primary care providers' (PCPs) knowledge and self-efficacy in caring for patients with autism spectrum disorder (ASD). Benefits of ECHO Autism participation may not be fully captured in studies measuring only quantitative outcomes. Qualitative methodology was used to explore the perceptions, meaning, and impact of ECHO Autism from the perspective of participating PCPs.

Methods: We used group level assessment, a large-group participatory, qualitative research method modified to a virtual format to explore the perceptions, meaning, and impact of the ECHO Autism program from the perspective of 6 participating PCPs, 1 family member, and 5 hub team members. Individual, semi-structured interviews were conducted with 4 ECHO Autism participants to further explore the identified themes.

Results: Participants identified 6 primary themes corroborated by interview participants: (1) direct benefits to PCPs, (2) appreciation of the "all teach, all learn" approach, (3) sense of community, (4) value of the multidisciplinary conceptualization of care for children with ASD, (5) demystification of care for children with ASD, and (6) benefits to the PCPs' patients and their families. Feedback about ways to enhance the ECHO Autism program was categorized into 5 areas for improvement.

Conclusion: ECHO Autism builds a community for providers who may otherwise feel isolated and hesitant to manage complex needs of children with ASD. ECHO Autism is an innovative approach to build capacity for PCPs to provide high-quality evidence-based care to these children within their own communities.

Objective: Given the well-documented associations between excessive screen time (ST) and adverse health outcomes, this pilot study aimed to examine the applicability and effectiveness of a multicomponent intervention that combined strategies to enhance caregivers' screen-related parenting practices with efforts to create a supportive community environment to reduce children's ST in a county in China.

Methods: A 2-arm, cluster-randomized, wait-list controlled design was used. Eight communities and 336 caregivers of primary school-aged children were randomly assigned to intervention and control groups. Wilcoxon signed-rank tests and McNemar's χ 2 tests were applied to evaluate within-group changes over time. A linear mixed model was used to assess intervention effects.

Results: The intervention significantly reduced children's daily average total ST and entertainment ST on weekends (β = -43.81; p < 0.05; β = -22.29, p < 0.05) and on a weekly basis (β = -30.32; p < 0.05; β = -14.40, p < 0.05). Moreover, it significantly reduced the odds of excessive entertainment ST on weekdays (β = -2.32, p < 0.05) weekly (β = -2.34, p < 0.05) and excessive academic ST weekly (β = -1.71, p < 0.05). No significant treatment effect was found for parenting practices and children's physical activities.

Conclusion: This study supports the feasibility of a multicomponent intervention and its effectiveness in reducing children's excessive ST, particularly in addressing entertainment ST.