Speech, language, and reading in 10-year-olds with cleft: Associations with teasing, satisfaction with speech, and psychological adjustment

© 2017 American Cleft Palate-Craniofacial Association. Background: Despite the use of multidisciplinary services, little research has addressed issues involved in the care of those with cleft lip and/or palate across disciplines. The aim was to investigate associations between speech, language, reading, and reports of teasing, subjective satisfaction with speech, and psychological adjustment. Design: Cross-sectional data collected during routine, multidisciplinary assessments in a centralized treatment setting, including speech and language therapists and clinical psychologists. Participants: Children with cleft with palatal involvement aged 10 years from three birth cohorts (N = 170) and their parents. Outcome Measures: Speech: SVANTE-N. Language: Language 6-16 (sentence recall, serial recall, vocabulary, and phonological awareness). Reading: Word Chain Test and Reading Comprehension Test. Psychological measures: Strengths and Difficulties Questionnaire and extracts from the Satisfaction With Appearance Scale and Child Experience Questionnaire. Results: Reading skills were associated with self- and parent-reported psychological adjustment in the child. Subjective satisfaction with speech was associated with psychological adjustment, while not being consistently associated with speech therapists' assessments. Parent-reported teasing was found to be associated with lower levels of reading skills. Having a medical and/or psychological condition in addition to the cleft was found to affect speech, language, and reading significantly. Conclusions: Cleft teams need to be aware of speech, language, and/or reading problems as potential indicators of psychological risk in children with cleft. This study highlights the importance of multiple reports (self, parent, and specialist) and a multidisciplinary approach to cleft care and research

Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification

Multiplex ligation-dependent probe amplification (MLPA) is a recently described method for detecting gross deletions or duplications of DNA sequences, aberrations which are commonly overlooked by standard diagnostic analysis. To determine the incidence of copy number variants in cancer predisposition genes from families in the Wessex region, we have analysed the hMLH1 and hMSH2 genes in patients with hereditary nonpolyposis colorectal cancer (HNPCC), BRCA1 and BRCA2 in families with hereditary breast/ovarian cancer (BRCA) and APC in patients with familial adenomatous polyposis coli (FAP). Hereditary nonpolyposis colorectal cancer (n=162) and FAP (n=74) probands were fully screened for small mutations, and cases for which no causative abnormality were found (HNPCC, n=122; FAP, n=24) were screened by MLPA. Complete or partial gene deletions were identified in seven cases for hMSH2 (5.7% of mutation-negative HNPCC; 4.3% of all HNPCC), no cases for hMLH1 and six cases for APC (25% of mutation negative FAP; 8% of all FAP). For BRCA1 and BRCA2, a partial mutation screen was performed and 136 mutation-negative cases were selected for MLPA. Five deletions and one duplication were found for BRCA1 (4.4% of mutation-negative BRCA cases) and one deletion for BRCA2 (0.7% of mutation-negative BRCA cases). Cost analysis indicates it is marginally more cost effective to perform MLPA prior to point mutation screening, but the main advantage gained by prescreening is a greatly reduced reporting time for the patients who are positive. These data demonstrate that dosage analysis is an essential component of genetic screening for cancer predisposition genes