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This paper provides the detailed protocol for a pilot study testing the feasibility, acceptability, and initial efficacy of a targeted two-phase, remotely delivered early intervention program for infants with neurogenetic conditions (NGC) and their caregivers. The Parent and Infant Inter(X)action Intervention (PIXI) is designed to support parents and infants with an NGC diagnosed in the first year of life. PIXI is implemented in two phases, with the first phase focusing on psychoeducation, parent support, and how to establish routines for supporting infant development. Phase II helps parents learn targeted skills to support their infant’s development as symptoms may begin to emerge. The proposed case series will establish the feasibility of a year-long virtually implemented intervention program to support new parents of an infant diagnosed with an NGC.

The phenotypic impact of fragile X syndrome (FXS) has been well-documented since the discovery of the fragile X messenger ribonucleoprotein 1 gene 30 years ago. However, gaps remain in clinical and public health research. The purpose of this literature review was to determine the extent to which these gaps have been addressed and identify targeted areas of future research.We conducted an electronic search of several scientific databases using a variety of key words. The search focused on 5 areas identified as research gaps by an earlier review: (1) diagnosis, (2) phenotypic presentation, (3) familial impact, (4) interventions and treatments, and (5) life span perspectives. Inclusion criteria included publication between 2014 and 2020, focus on human subjects, and publication in English. A total of 480 articles were identified, 365 were reviewed, and 112 are summarized in this review.Results are organized into the following categories: (1) FXS phenotype and subtypes (FXS subtypes, medical profile, cognitive/developmental profile, social and behavioral profile); (2) needs of adults; (3) public health needs (clinical diagnosis and newborn screening, health care needs, and access); (4) treatment (treatment priorities, pharmacological treatments, and behavioral and educational interventions); and (5) families (economic burden and mother-child relationship).Despite the progress in many areas of FXS research, work remains to address gaps in clinical and public health knowledge. We pose 3 main areas of focused research, including early detection and diagnosis, determinants of health, and development and implementation of targeted interventions.

This article examined the associations between family processes and children’s development among mothers and their children participating in early intervention (EI) services. Data from mothers and their infants and toddlers ( n = 100) participating in EI were analyzed using regression methods to test the predictive power of maternal depressive symptoms, self-efficacy, and quality of mother–child interactions on children’s behavior problems and social and emotional competence. Mother–child interactions were the most robust predictor of child behavior problems and competence. The presence of clinically elevated maternal depressive symptoms was high (30%) and associated with more child behavior problems. Stronger endorsement of self-efficacy also was related to higher levels of child social and emotional competence. We discuss our findings related to opportunities and challenges to support mothers experiencing depressive symptoms. EI services that strive toward an integrated approach could identify mothers with depressive symptoms and play an increased role in directly addressing their needs.

BACKGROUND: Children with FMR1 gene expansions are known to experience a range of developmental challenges, including fragile X syndrome. However, little is known about early development and symptom onset, information that is critical to guide earlier identification, more accurate prognoses, and improved treatment options. METHODS: Data from 8 unique studies that used the Mullen Scales of Early Learning to assess children with an FMR1 gene expansion were combined to create a data set of 1178 observations of >500 young children. Linear mixed modeling was used to explore developmental trajectories, symptom onset, and unique developmental profiles of children RESULTS: Boys with an FMR1 gene full mutation showed delays in early learning, motor skills, and language development as young as 6 months of age, and both sexes with a full mutation were delayed on all developmental domains by their second birthday. Boys with a full mutation continued to gain skills over early childhood at around half the rate of their typically developing peers; girls with a full mutation showed growth at around three-quarters of the rate of their typically developing peers. Although children with a premutation were mostly typical in their developmental profiles and trajectories, mild but significant delays in fine motor skills by 18 months were detected. CONCLUSIONS: Children with the FMR1 gene full mutation demonstrate significant developmental challenges within the first 2 years of life, suggesting that earlier identification is needed to facilitate earlier implementation of interventions and therapeutics to maximize effectiveness.

[Figure: see text] BACKGROUND: Children with FMR1 gene expansions are known to experience a range of developmental challenges, including fragile X syndrome. However, little is known about early development and symptom onset, information that is critical to guide earlier identification, more accurate prognoses, and improved treatment options. METHODS: Data from 8 unique studies that used the Mullen Scales of Early Learning to assess children with an FMR1 gene expansion were combined to create a data set of 1178 observations of >500 young children. Linear mixed modeling was used to explore developmental trajectories, symptom onset, and unique developmental profiles of children

Parents and children experiencing an episode of homelessness face a variety of adverse factors that can increase their risk of difficult relationships and even child maltreatment. Parent support programs have been suggested as one way to strengthen parent-child relationships and decrease risk of child maltreatment for this vulnerable population, but such programs have not been rigorously evaluated. This study was designed to investigate if Circle of Parents, a self-help support group developed to decrease child maltreatment, was a feasible, acceptable, and effective intervention for parents residing in shelters (N = 80). The investigation utilized a quasi-experimental design using propensity score analysis with a services-as-usual comparison group. The Protective Factors Survey (PFS) and a client satisfaction questionnaire served as the primary outcome measures and group facilitators provided information about feasibility of the intervention within shelters. Promising evidence was found for the acceptability and feasibility of Circle of Parents. However, analyses of PFS data showed little difference between the intervention and services-as-usual comparison groups. Overall, findings pointed to emerging positive findings but underscored the need for continued controlled examination of the effectiveness of Circle of Parents implemented in shelters and transitional housing.