Exploring the speech and language of individuals with non-syndromic submucous cleft palate: a preliminary report.

Background: Submucous cleft palate (SMCP) has a heterogeneous presentation and is often identified late or misdiagnosed. Diagnosis is prompted by speech, resonance or feeding symptoms associated with velopharyngeal insufficiency. However, the broader impacts of SMCP on communication have rarely been examined and therefore are poorly understood.

Receptive and expressive language characteristics of school-aged children with non-syndromic cleft lip and/or palate.

Background: Research investigating language skills in school-aged children with non-syndromic cleft lip and/or palate is sparse. Past studies focus on younger populations, lack key comparisons to demographically matched control cohorts or explore language as a component of broader academic skills. Trends of existing studies suggest that affected children may perform at a lower level compared with typically developing peers.

Speech and language in a genotyped cohort of individuals with Kabuki syndrome.

Speech and language deficits are commonly associated with Kabuki syndrome. Yet little is known regarding the specific symptomatology of these disorders, preventing use of targeted treatment programs. Here we detail speech and language in 16 individuals with Kabuki syndrome (thirteen with KMT2D mutations, one with a KDM6A mutation, and two mutation-negative cases), aged 4-21 years.

Regional brain morphometric characteristics of nonsyndromic cleft lip and palate.

Nonsyndromic cleft lip and palate (NSCLP) encompasses a group of orofacial abnormalities. Emerging evidence has revealed the presence of structural brain abnormalities in affected individuals. Previous studies have performed structure-based volumetric analysis of the brain assessing gross lobular subdivisions of the cerebral cortex and white matter which may have only vague relationships to the functional subregions implicated in behavioral and cognitive deficits observed in NSCLP patients.

Neurodevelopmental outcomes in infants and children with single-suture craniosynostosis: a systematic review.

Children with single-suture craniosynostosis (SSC) are increasingly considered to be at high risk of adverse neurodevelopmental outcomes. This systematic review aimed to synthesise and critically appraise the existing literature on the neurodevelopmental features of SSC, with particular attention to methodological quality. A total of 33 articles based on 27 cohorts met inclusion criteria.

Early neurodevelopment in infants with deformational plagiocephaly.

The objective of this study was to characterize the early neurodevelopmental profile of Australian infants with deformational plagiocephaly (DP). Twenty-one infants with a confirmed diagnosis of DP (mean age, 7.9 months; SD, 2.

Longitudinal study of the neurodevelopmental characteristics of treated and untreated nonsyndromic craniosynostosis in infancy.

Purpose: Nonsyndromic craniosynostosis (NSC) are a group of congenital disorders sharing premature fusion of one or more of the cranial sutures that restricts and distorts growth of the skull and underlying brain. This study examined the neurodevelopmental sequelae of NSC both prior to and following reconstructive cranial surgery.

Methods: Sixty-four consecutive referrals with mixed forms of untreated NSC aged 4 to 16 months (M = 8.

Neurodevelopmental functioning of infants with untreated single-suture craniosynostosis during early infancy.

Purpose: Single-suture craniosynostosis (SSC) is a congenital craniofacial disorder, in which premature fusion of one of the skull sutures restricts and distorts growth of the cranium and underlying brain. This disorder of prenatal onset occurs during a critical phase of rapid growth and development of the immature brain. Craniosynostosis carries a known risk of developmental impairment.

Quantitative morphometric outcomes following the Melbourne method of total vault remodeling for scaphocephaly.

The Melbourne method of total vault remodeling was developed at The Royal Children's Hospital (Melbourne) to address all phenotypic aspects of scaphocephaly. To quantitatively evaluate this technique, a retrospective analysis was performed on 33 consecutive patients who underwent the Melbourne procedure between October 2004 and June 2007. To monitor outcomes, three-dimensional digital surface photography was used, obtaining 4 anthropometric measurements (cranial length, cranial width, head circumference, auricular head height) preoperatively and postoperatively.

The phenotype of Floating-Harbor syndrome in 10 patients.

Floating-Harbor syndrome (FHS) is a rare condition typified by short stature, speech impairment, delayed bone age, and characteristic facies. The diagnosis can be difficult as the facial changes are subtle in infancy, and the features of short stature, delayed speech, and delayed bone age are frequently encountered in clinical practice. We refine the phenotype in FHS by reporting clinical findings in 10 typically affected individuals ranging in age from 7 to 34 years and present a mother and daughter who display some features of FHS.

SMS text messaging improves outpatient attendance.

Objective: To evaluate the operational and financial efficacy of sending short message service (SMS) text message reminders to the mobile telephones of patients with scheduled outpatient clinic appointments.

Design: Cohort study with historical control.

Setting: Royal Children's Hospital, Melbourne, Victoria.

Intellectual outcomes in children and adolescents with syndromic and nonsyndromic craniosynostosis.

Background: Craniosynostosis, the premature fusion of the skull bones, is a congenital deformity that has functional and morphologic implications. Cranial vault reconstructive surgery is required to improve skull shape and increase intracranial volume. Craniosynostosis disorders carry a risk of brain insult and associated neurologic and cognitive dysfunction.

Use of SMS text messaging to improve outpatient attendance.

Objective: To evaluate the effect of appointment reminders sent as short message service (SMS) text messages to patients' mobile telephones on attendance at outpatient clinics.

Design: Cohort study with historical control.

Setting: Royal Children's Hospital, Melbourne, Victoria.

Neuropsychological diversity in Apert syndrome: a comparison of cognitive profiles.

Apert syndrome is characterized by craniosynostosis, central nervous system anomalies, midface hypoplasia, and syndactyly. Current research has focused on genetic and neurologic correlates. Cognitive assessment has been primarily limited to global intellectual evaluations, which can fail to detect the diverse cognitive attributes of these children at an individual level.

Sports injury experiences from the Western Australian Sports Injury Cohort Study.

Objective: The Western Australian Sports Injury Study is the first prospective cohort study of sports injuries sustained during community-level sports participation in Australia.

Methods: The players were nonprofessional/non-elite participants of hockey, Australian football, basketball and netball from metropolitan Perth. Players completed a baseline questionnaire relating to their sports injury history, training practices, protective equipment use, demographic profile, general health and lifestyle factors.