Enlarged cavum septum pellucidum and small thymus as markers for 22q11.2 deletion syndrome.

Background: Enlarged cavum septum pellucidum (CSP) and hypoplastic thymus are proposed extra-cardiac fetal markers for 22q11.2 deletion syndrome. We sought to determine if they were part of the fetal phenotype of our cohort of fetuses with 22q11.

Paid summer undergraduate internships are one strategy to increase diversity in genetic counseling.

The genetic counseling profession has attempted to enhance the diversity of its workforce since its inception but does not yet reflect the demographics of the United States. One barrier to entry into genetic counseling programs may be the ability to gain exposure to the profession prior to applying for entry. Many applicants participate in unpaid shadowing experiences, which could be a limitation to students from underrepresented backgrounds who may be less familiar with the field or who cannot forgo a salary.

Intimate Partner Violence and Child and Adolescent Cognitive Development: A Systematic Review.

Intimate partner violence (IPV) is a public health and human rights issue, with millions of children affected worldwide. While several reviews have explored the emotional-behavioural functioning of children exposed to IPV, this review aimed to examine the relationship between children's exposure to IPV and their cognitive development, and to identify associated factors such as aspects of parenting. The databases MEDLINE, PsycInfo, EMBASE, Family and Society Studies Worldwide, CINAHL, and ERIC were searched using key words related to IPV, such as domestic, family, partner, interparental, spousal, marital, violence, abuse, aggression, assault, combined with key words related to cognitive functioning, such as neuropsychological, executive, intelligence, learning, memory, and key words related to children and adolescents.

Intimate partner violence and child outcomes at age 10: a pregnancy cohort.

Objective: Assess the mental health, physical health, cognitive and language development of 10-year old children in families where mothers have reported intimate partner violence (IPV) compared with children with no reported IPV exposure.

Design: Prospective pregnancy cohort. Maternal report of IPV (Composite Abuse Scale) at 1, 4 and 10 years.

Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders.

Purpose: Pathogenic variants in SCN2A cause a wide range of neurodevelopmental phenotypes. Reports of genotype-phenotype correlations are often anecdotal, and the available phenotypic data have not been systematically analyzed.

Methods: We extracted phenotypic information from primary descriptions of SCN2A-related disorders in the literature between 2001 and 2019, which we coded in Human Phenotype Ontology (HPO) terms.

Physical and mental health of women exposed to intimate partner violence in the 10 years after having their first child: an Australian prospective cohort study of first-time mothers.

Objective: To investigate mental and physical health of mothers exposed to recent and early postpartum intimate partner violence (IPV) in the 10 years after having their first child.

Design: Prospective pregnancy cohort study.

Setting: Women were recruited at six metropolitan public maternity hospitals in Melbourne, Australia and followed up at 1, 4 and 10 years post partum.

Children's language abilities at age 10 and exposure to intimate partner violence in early childhood: Results of an Australian prospective pregnancy cohort study.

Background: Approximately one in four children in Australia have mothers who experience intimate partner violence (IPV). These children are at risk of poor mental health. Less is known about their language outcomes, despite evidence that childhood adversity threatens neurodevelopment, and the home environment effects language development.

Intimate partner violence, maternal depression, and pathways to children's language ability at 10 years.

Intimate partner violence (IPV) between parents is associated with poorer child language development. This study aimed to examine pathways from IPV and maternal depressive symptoms in children's 1st year to language skills at 10 years. Pathways were examined via IPV, maternal depressive symptoms, and maternal involvement in home learning activities (e.

Infant sleep and child mental health: a longitudinal investigation.

Objective: To determine whether infants with severe persistent sleep problems are at increased risk of (1) meeting diagnostic criteria for a psychiatric disorder (age 10 years), and (2) having elevated symptoms of mental health difficulties (ages 4 and 10 years), in comparison with infants with settled sleep.

Design And Setting: Prospective longitudinal community cohort study-the Maternal Health Study. Mothers completed questionnaires/interviews at 15 weeks' gestation; 3, 6, 9 and 12 months post partum; and when their child turned 4 and 10 years old.

Have You Ever Googled a Patient or Been Friended by a Patient? Social Media Intersects the Practice of Genetic Counseling.

Patients and healthcare providers are becoming increasingly connected via social media, bringing new opportunities and challenges. Direct connection can occur between patients and providers using online tools such as Facebook and LinkedIn. In addition, providers can gather information about patients using a search engine such as Google, referred to as patient-targeted Googling (PTG).

Maternal communicative behaviours and interaction quality as predictors of language development: findings from a community-based study of slow-to-talk toddlers.

Background: Identifying risk and protective factors for language development informs interventions for children with developmental language disorder (DLD). Maternal responsive and intrusive communicative behaviours are associated with language development. Mother-child interaction quality may influence how children use these behaviours in language learning.

Associations between expressive and receptive language and internalizing and externalizing behaviours in a community-based prospective study of slow-to-talk toddlers.

Background: Evidence suggests that language and social, emotional and behavioural (SEB) difficulties are associated in children and adolescents. When these associations emerge and whether they differ by language or SEB difficulty profile is unclear. This knowledge is crucial to guide prevention and intervention programmes for children with language and SEB difficulties.

Attitudes about the use of internet support groups and the impact among parents of children with Cornelia de Lange syndrome.

There is an abundance of information in the literature on patient experiences with Internet support groups (ISGs). However, studies exploring these experiences in a rare disease population are scarce, even though these families are often at a disadvantage for resources, reliable information, and support. The aim of the current study was to explore the experiences with ISGs for parents of children with Cornelia de Lange syndrome (CdLS), a rare genetic diagnosis, in order to better understand the impact on emotional support and their child's medical care.

Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses.

Given the clinical complexities of Cornelia de Lange Syndrome (CdLS), the Center for CdLS and Related Diagnoses at The Children's Hospital of Philadelphia (CHOP) and The Multidisciplinary Clinic for Adolescents and Adults at Greater Baltimore Medical Center (GBMC) were established to develop a comprehensive approach to clinical management and research issues relevant to CdLS. Little work has been done to evaluate the general utility of a multispecialty approach to patient care. Previous research demonstrates several advantages and disadvantages of multispecialty care.

Genetic risk perception and reproductive decision making among people with epilepsy.

We investigated estimated offspring risk among people with epilepsy and factors important in the family-planning process. Data were collected for 88 participants using a questionnaire assessing perceived risk of offspring to develop epilepsy, importance of factors in the reproductive decision-making process, decision to have fewer children, and association between risk perception and family planning decisions. Thirty-four percent of participants had fewer children because of their epilepsy.