'Either something's wrong, or I'm a terrible parent': A systematic review of parent experiences of illness-related interpretations for unsettled babies.

Aims: To explore parents' experiences of unsettled babies and medical labels.

Design: Qualitative systematic review, thematic synthesis and development of a conceptual model.

Review Methods: Systematic review and thematic synthesis of primary, qualitative research into parents' experiences of unsettled babies <12 months of age.

Living with unsettled baby behaviours: Qualitative interview study exploring parental perceptions and experiences of help-seeking.

Aim: To explore parents' perceptions/experiences of help-seeking for unsettled baby behaviours, including views and experiences of obtaining advice from primary healthcare professionals.

Design: Semi-structured qualitative interviews.

Methods: Recruitment occurred via social media, general practice and health visiting teams.

Health professionals' and beauty therapists' perspectives on female genital cosmetic surgery: an interview study.

Background: Female genital cosmetic surgery (FGCS) changes the structure and appearance of healthy external genitalia. We aimed to identify discourses that help explain and rationalise FGCS and to derive from them possibilities for informing clinical education.

Methods: We interviewed 16 health professionals and 5 non-health professionals who deal with women's bodies using a study-specific semi-structured interview guide.

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.

Purpose: Coffin-Siris and Nicolaides-Baraitser syndromes are recognizable neurodevelopmental disorders caused by germline variants in BAF complex subunits. The SMARCC2 BAFopathy was recently reported. Herein, we present clinical and molecular data on a large cohort.

Parental perceptions and experiences of infant crying: A systematic review and synthesis of qualitative research.

Background: Excessive infant crying is common and can have a huge impact on families and well-being. Systematically reviewing qualitative studies on infant crying can provide a greater understanding of parental perceptions and experiences.

Aim: This study sought to systematically review and thematically synthesize qualitative studies exploring parents/carers' views and experiences of infant crying.

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.

CHD8, a major autism gene, functions in chromatin remodelling and has various roles involving several biological pathways. Therefore, unsurprisingly, previous studies have shown that intellectual developmental disorder with autism and macrocephaly (IDDAM), the syndrome caused by pathogenic variants in CHD8, consists of a broad range of phenotypic abnormalities. We collected and reviewed 106 individuals with IDDAM, including 36 individuals not previously published, thus enabling thorough genotype-phenotype analyses, involving the CHD8 mutation spectrum, characterization of the CHD8 DNA methylation episignature, and the systematic analysis of phenotypes collected in Human Phenotype Ontology (HPO).

The contribution of online content to the promotion and normalisation of female genital cosmetic surgery: a systematic review of the literature.

Background: Women considering female genital cosmetic surgery (FGCS) are likely to use the internet as a key source of information during the decision-making process. The aim of this systematic review was to determine what is known about the role of the internet in the promotion and normalisation of female genital cosmetic surgery and to identify areas for future research.

Methods: Eight social science, medical, and communication databases and Google Scholar were searched for peer-reviewed papers published in English.

Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

Bohring-Opitz syndrome is a rare genetic condition characterized by distinctive facial features, variable microcephaly, hypertrichosis, nevus flammeus, severe myopia, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe intellectual disability, and feeding issues. Nine patients with Bohring-Opitz syndrome have been identified as having a mutation in ASXL1. We report on eight previously unpublished patients with Bohring-Opitz syndrome caused by an apparent or confirmed de novo mutation in ASXL1.