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. AIM: To describe the communicative profile of individuals with non-syndromic SMCP by examining speech, language and pragmatics (social language). METHODS & PROCEDURES: Fifteen participants with SMCP aged 5;1-12;8, without a genetic diagnosis, participated in the study. Participants completed standardized assessments examining language, resonance, speech and non-verbal intellect. Parents also completed the Children's Communication Checklist (CCC-2), which provided a measure of overall communicative ability, including pragmatic skills. Formal language outcomes were compared with two cohorts: 36 individuals with overt non-syndromic clefts and 129 individuals with no history of clefting. OUTCOMES & RESULTS: Speech intelligibility was reduced secondary to hypernasality, disordered articulation and/or impaired phonology (n = 7) in children with SMCP. Poorer overall language outcomes were observed for children with SMCP compared with both those with overt clefts and no history of clefting (p < 0.001). Language scores for children with SMCP ranged from impaired (n = 6) to above the standardized mean (n = 4). Receptive and expressive language performance were independently correlated with non-verbal IQ (p < 0.01). Those with severe language impairment (n = 4) also had borderline or impaired non-verbal IQ. Parents reported that speech and semantics were the most affected sub-domains of communication, while scores were the highest for the initiation domain. Speech and language skills were correlated strongly with pragmatics (r = 0.877, p < 0.01). CONCLUSIONS & IMPLICATIONS: Overall, performance was variable within the SMCP group across speech, language and pragmatic assessments. In addition to well-documented speech difficulties, children with SMCP may have language or pragmatic impairments, suggesting that further neurodevelopmental influences may be at play. As such, for individuals with SMCP, additional clinical screening of language and pragmatic abilities may be required to ensure accurate diagnosis and guide both cleft and non-cleft related therapy programmes.

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. AIMS: To examine the receptive and expressive language skills of middle-school-aged children with non-syndromic cleft lip and palate (CLP) and cleft palate only (CP). Additionally, to explore the language skills of children with clefts compared with a non-cleft control group. METHODS & PROCEDURES: Thirty-seven participants with orofacial clefts (aged 7;1-14;1 years) participated in the study: 19 with CLP (10 males; 9 females) and 18 with CP (8 males; 10 females). A non-cleft comparison group consisted of 129 individuals matched on age, sex and maternal education level. Participants completed formal language (Clinical Evaluation of Language Fundamentals, Fourth Edition) and non-verbal intellectual measurements (Wechsler Abbreviated Scale of Intelligence-WASI). Demographic and developmental information was obtained via parental interview. Further clinical details (e.g., surgery; hearing status) were extracted from patient medical files. Cleft and non-cleft language and non-verbal IQ outcomes were reported separately. Language outcomes were then compared between groups. OUTCOMES & RESULTS: Participants with clefts achieved core (mean = 103.31, standard deviation (SD) = 10.31), receptive (mean = 102.51, SD = 11.60) and expressive (mean = 102.89, SD = 12.17) language index scores within the normative average range. A total of 14.1% and 17.8% of the cleft and non-cleft groups respectively had impairment (i.e., ≥ 1.25 SD below the mean) in one or more language domains. No significant differences were found in the three language index scores between cleft and non-cleft groups. CONCLUSIONS & IMPLICATIONS: This study is the first formally to examine language skills alongside non-verbal IQ in school-aged children with clefts compared with a large matched non-cleft population. Results suggest that health professionals should evaluate each child as they present and not assume that a child with non-syndromic CLP or CP will also have co-occurring language difficulties. Where language falls in the average range, these skills can be harnessed to support areas of difficulty often associated with orofacial clefting, such as speech.

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. The most striking speech deficit was dysarthria, characterised by imprecise consonants, harsh vocal quality, hypernasality, reduced rate and stress, and distorted pitch. Oromotor functioning was also impaired. Delayed, rather than disordered, articulation and phonology was common. Both receptive and expressive language abilities were reduced in the majority and deficits were noted across all language sub-domains (i.e., semantics, syntax, morphology, and pragmatics) with no clear differentiation or specific language profile. Individuals with Kabuki syndrome present with a heterogenous pattern of oromotor, speech, and language deficits. This variability fits with the multisystem nature of the disorder, which may encompass neurological, orofacial structural, hearing, and cognitive deficits, any or all of which may contribute to speech or language impairment. Our results suggest that all individuals with Kabuki syndrome have some level of communication deficit, warranting speech pathology involvement in all cases.

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. High-resolution magnetic resonance imaging structural data were acquired to provide a detailed characterization of the brain with respect to both regional cortical volume and thickness in 26 children with NSCLP and 26 age- and demographically matched typically developing children. Children with NSCLP exhibited abnormally large cerebral cortex grey matter volumes with decreased volumes of subcortical grey matter and cerebral white matter structures. Hemisphere-specific patterns of cortical volume and thickness abnormalities were identified. This study is the first to examine cortical thickness abnormalities in NSCLP. Overall, these findings suggest that the brains of children with NSCLP are less mature than those of their age-matched peers. Gender-specific comparisons reveal that NSCLP females were more immature compared to their typically developing peers compared to NSCLP males.

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. In the context of variable methodological design and quality, most neurodevelopmental studies indicated that children with SSC are at increased risk for difficulties in cognitive, language, and motor domains during infancy (both pre- and post-surgery) and childhood. Limited information exists on factors influencing outcome.

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, 2.0 months) were assessed on the Bayley Scales of Infant Development, Second Edition, before treatment. As a group, infants with DP showed significantly weaker motor skills compared with the normative population. Patients with DP did not significantly differ from normative population estimates with respect to cognitive abilities. Males with DP displayed significantly reduced motor abilities compared to females. These findings do not suggest that DP causes developmental problems, but DP could be a marker for risk of developmental problems. Screening for developmental concerns in infants with DP is therefore important.

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 = 8.9, SD = 2.9) comprised the pre-operative cohort. Forty-four of these patients aged 6 to 32 months (M = 21.2, SD = 4.5) underwent post-operative developmental evaluation. Neurodevelopmental function was assessed with the mental (Mental Development Index) and motor (Psychomotor Development Index) scales of the Bayley Scales of Infant Development-2nd edition. RESULTS: Children with untreated NSC displayed significantly lower mental (M = 97.5) and motor (M = 87.7) scores than normative expectations, with the distribution of scores also differing significantly from the normative distribution. Post-operatively, children continued to display significantly lower mental (M = 89.5) and motor (M = 88.0) abilities, with mental abilities falling significantly lower than pre-operative levels. An increased prevalence of severe motor delay was found, and no child displayed accelerated development. Subgroup comparisons revealed no differences in mental or motor skills between the primary diagnostic subtypes (sagittal and metopic synostosis) both prior to and following corrective surgery. CONCLUSIONS: NSC is associated with an increased incidence of developmental delay in both treated and untreated conditions. Timing of surgery appears unrelated to developmental outcome.

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. The neurodevelopmental sequelae of SSC prior to treatment remains however incompletely understood. This study sought to determine the neurodevelopmental sequelae of untreated single-suture craniosynostosis during early infancy. METHODS: Fifty-six consecutive patients with unoperated SSC (sagittal, metopic and unicoronal) comprised the sample cohort. Patients were aged between 4 and 16 months (M = 8.9 months, SD = 2.9 months). Neurodevelopmental functioning was assessed with the mental (Mental Development Index) and motor (Psychomotor Development Index) scales of the Bayley Scales of Infant Development, second edition. RESULTS: Children with SSC displayed significantly lower mean mental (M = 97.7, SD = 6.7, p < 0.05) and motor (M = 87.7, SD = 13.0, p < 0.001) scores than normative population averages. The distribution of these scores also differed significantly from the normative distribution; an increased rate of significant motor developmental delay was found, and none of the children displayed accelerated development. Subgroup comparisons between the primary diagnostic subtypes in this sample revealed no significant differences in mental or motor skill functioning. CONCLUSIONS: Untreated SSC is associated with an increased incidence of developmental delay during early infancy, with motor skills appearing the most vulnerable to impairment during this developmental phase.

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. To assess the effect on continuing cranial vault development, cranial volume was calculated with computed tomography. Anthropometric measurements were obtained in 27 patients (81.8%), with a mean postoperative follow-up of 8.9 months. Cranial index (width/length) demonstrated an 11.1% improvement. The mean head circumference in the scaphocephaly group preoperatively remained larger than the normative population postoperatively, although the magnitude of difference was decreased, whereas the mean auricular head height demonstrated a 10.5% increase postoperatively, remaining higher than the normative population. Cranial volume was calculated in 30 patients (91%), with a mean postoperative follow-up of 7.9 months. This demonstrated that the mean intracranial volume was significantly higher in the scaphocephaly group preoperatively, and this difference was maintained postoperatively. These results support our belief that the Melbourne procedure is a technique that may be used to correct all phenotypic aspects of scaphocephaly, with no apparent evidence for a detrimental effect on cranial growth.

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. Bone age measurements were delayed when measured from age 6 months to 6 years but in some patients were normal between 6 and 12 years. Dysmorphic features at different ages are characterized. The lateral profile of the face and the characteristic body habitus aided diagnosis. Significant behavioral problems of hyperactivity, short attention span and aggression during childhood were reported for most individuals. The children studied had a severe and incapacitating disorder of speech and language. Intellectual functioning ranged from borderline normal to moderate intellectual disability. Early puberty was noted. Adult heights were 140-155 cm. Microarray analysis in eight of the patients provided no evidence that FHS is caused by a large-scale copy-number genomic change.

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. PATIENTS: Patients who gave a mobile telephone contact number and were scheduled to attend an outpatient clinic at the Royal Children's Hospital, Melbourne in October, November and December 2004 (trial group) or in October, November and December 2003 (historical control group). MAIN OUTCOME MEASURES: Failure-to-attend (FTA) rate compared between the trial group, whose members were sent a reminder, and the historical control group, whose members were not sent a reminder. Financial benefits versus cost of sending reminders. RESULTS: 22,658 patients with a mobile telephone contact number scheduled to attend an outpatient clinic appointment in October, November and December 2004 were sent an SMS reminder; 20,448 (90.2%) of these patients attended their appointment. The control group included 22,452 patients with a mobile telephone contact number scheduled to attend an appointment, with 18,073 (80.5%) patients attending. The FTA rate was significantly lower in the trial group than in the historical control group (9.8% v 19.5%; P < 0.001). The cost of sending the SMS reminders was small compared with the increase in patient revenue and associated benefits generated as a result of improved attendance. CONCLUSIONS: The observed reduction in FTA rate was in line with that found using traditional reminder methods and a prior pilot study using SMS. The FTA reduction coupled with the increase in patient revenue suggests that reminding patients using SMS is a very cost effective approach for improving patient attendance.

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. This study investigated the long-term effects of craniosynostosis on intelligence in children and adolescents with syndromic and nonsyndromic disorders who had undergone cranial expansion surgery during infancy. METHODS: Global intellectual evaluations were obtained on 31 children aged 7 to 16 years with mixed syndromic (n = 13) and nonsyndromic (n = 18) craniosynostoses. Results of intellectual assessment were compared with norm-referenced data. Age at surgery and gender comparisons were also made. RESULTS: Mean +/- SD general intelligence quotient of the total sample was within the average range (intelligence quotient, 95.6 +/- 21.2). Intellectual functioning was significantly lower in children with syndromic craniosynostosis (mean intelligence quotient, 83.1 +/- 21.9) than nonsyndromic craniosynostosis (mean intelligence quotient, 104.7 +/- 15.8). The majority of children with syndromic craniosynostosis (77 percent) were of normal intelligence. Children with nonsyndromic craniosynostosis did not display obvious evidence of intellectual dysfunction. There were no age or gender differences in intellectual outcomes in this sample. CONCLUSIONS: Findings are contrary to the historical impression that has regarded syndromic craniosynostosis as synonymous with intellectual disability. Children with nonsyndromic craniosynostosis are of normal intelligence during their school-age years.

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. PATIENTS: Patients who gave a mobile telephone contact number and were scheduled to attend any of five outpatient clinics (dermatology, gastroenterology, general medicine, paediatric dentistry and plastic surgery) in September (trial group) or August (control group), 2004. MAIN OUTCOME MEASURES: Failure to attend (FTA) rate compared between the group sent a reminder and those who were not. RESULTS: 2151 patients were scheduled to attend a clinic in September; 1382 of these (64.2%) gave a mobile telephone contact number and were sent an SMS reminder (trial group). Corresponding numbers in the control group were 2276 scheduled to attend and 1482 (65.1%) who gave a mobile telephone number. The FTA rate for individual clinics was 12%-16% for the trial group, and 19%-39% for the control group. Overall FTA rate was significantly lower in the trial group than in the control group (14.2% v 23.4%; P < 0.001). CONCLUSIONS: The observed reduction in failure to attend rate was in line with that found using traditional reminder methods. The ease with which large numbers of messages can be customised and sent by SMS text messaging, along with its availability and comparatively low cost, suggest it may be a suitable means of improving patient attendance.

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. This report describes in detail the neuropsychological profiles of 2 children with Apert syndrome, incorporating clinical, radiographic, molecular and surgical data. One child showed intellectual deficits consistent with a moderate intellectual disability. The second child, while of normal intelligence, displayed neuropsychological deficits associated with anterior-brain-region cognitive functions. These data highlight the diversity of neuropsychological outcomes in Apert syndrome in the same genetic mutation and underline the importance of detailed neuropsychological evaluations as integral to the management protocols of affected individuals.

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. Sports participation and injury experiences were monitored by monthly telephone surveys over two consecutive five-month winter sporting seasons during 1997 and 1998. RESULTS: Of the 1,512 players recruited into the initial cohort, 966 (i.e. 64%) responded to at least 700% of the callback surveys over the two-year follow-up. Across all sports, the injury incidence rate was 16.1 injuries/ 1,000 exposure hours (both games and training). Injury rates were highest in Australian football and lowest in netball. Lower limb injuries were twice as common as those to the upper limb (67% vs. 31%). Three-quarters of injured players sought treatment from a health care practitioner. CONCLUSIONS AND IMPLICATIONS: This is the first longitudinal study of injuries to community-based sports participants in Australia. Compared with elite sports participants, the risk of injury is relatively low. The results provide valuable direction for the design and conduct of further aetiological studies.