Dental Phenotype with Minor Ectodermal Symptoms Suggestive of WNT10A Deficiency.

Ectodermal dysplasias (EDs) represent a heterogeneous group of genetic disorders characterized by the abnormal development of ectodermal-derived tissues. They include the involvement of the hair, nails, skin, sweat glands, and teeth. Pathogenic variants in EDA1 (Xq12-13.1; OMIM*300451), EDAR (2q11-q13; OMIM*604095), EDARADD (1q42-q43, OMIM*606603), and WNT10A (2q35; OMIM*606268) genes are responsible for most EDs. Bi-allelic pathogenic variants of WNT10A have been associated with autosomal recessive forms of ED, as well as non-syndromic tooth agenesis (NSTA). The potential phenotypic impact of associated modifier mutations in other ectodysplasin pathway genes has also been pointed out. We present on an 11-year-old Chinese boy with oligodontia, with conical-shaped teeth as the main phenotype, and other very mild ED signs. The genetic study identified the pathogenic variants WNT10A (NM_025216.3): c.310C > T; p. (Arg104Cys) and c.742C > T; p. (Arg248Ter) in compound heterozygosis, confirmed by parental segregation. In addition, the patient had the polymorphism EDAR (NM_022336.4): c.1109T > C, p. (Val370Ala) in homozygosis, named EDAR370. A prominent dental phenotype with minor ectodermal symptoms is very suggestive of WNT10A mutations. In this case, the EDAR370A allele might also attenuate the severity of other ED signs.

Clinical and acoustic vocal profile in children with attention deficit hyperactivity disorder.

PURPOSE: The objective of this study was to evaluate the presence of etiologic factors, symptoms, and vocal acoustic alterations related to vocal hyperfunction in children with attention deficit hyperactivity disorder (ADHD). METHOD: In 23 children with ADHD and 28 control children, vocal acoustic exploration was performed to analyze the F0, jitter %, and voice turbulence index for the sustained vowels /a/ and /i/ and the average tone and intensity and tonal modulation in tests of continuous speech. The children's parents completed a specific questionnaire aimed at detecting etiologic factors and vocal symptoms. RESULTS: Children with ADHD displayed more vocal symptoms (hoarseness, neck strain, and shortness of breath while talking) and more etiologic factors (they shouted more, spoke louder and faster, and became angry more easily) than did children in the Control group. Likewise, children in the ADHD group exhibited a greater % jitter and a lower average intensity in the continuous speech tests. CONCLUSIONS: These results indicate that children with ADHD display greater vocal hyperfunction as compared with children in the Control group and suggest a higher risk of developing dysphonia. The results of this study could be useful for designing vocal programs focusing on vocal education and hygiene to prevent and decrease vocal risks and on promoting vocal health in children with ADHD.