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Oral and craniofacial disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
For most clinicians, craniofacial abnormality is a confusing area, on the borderline between medicine and dentistry, yet overlapping broadly into other fields. The plastic or maxillofacial surgeon is the person who sees most of the facial disorders, and there is no doubt that genetic counselling is an integral part of the management of these patients. Even minor facial anomalies can cause great distress, and accurate information regarding possible risks to offspring will usually provide considerable relief from worry for such people.
Disorders of Speech and Language
Published in John C Watkinson, Raymond W Clarke, Christopher P Aldren, Doris-Eva Bamiou, Raymond W Clarke, Richard M Irving, Haytham Kubba, Shakeel R Saeed, Paediatrics, The Ear, Skull Base, 2018
Suzanne Harrigan, Andrew Marshall
Children with physical impairments including cerebral palsy are likely to present with speech, language and communication difficulties. Speech in particular is often affected because of the difficulties in motor control and planning, but individuals with physical disabilities may also present with learning difficulties and sensory impairments, which can further exacerbate their communication difficulties. It is also important to mention that physical impairments of the vocal tract can cause speech difficulties. In particular, cleft palate, which is the most common congenital craniofacial abnormality, affecting about 1 in 600 live births, can cause atypical speech development and problems with resonance that can persist without specialist support and treatment.
Childhood hearing loss detected beyond the newborn screen
Published in International Journal of Audiology, 2023
E. Jane Fitzgibbons, Stephanie Keszegi, Carlie Driscoll, Rachael Beswick
Children referred through the targeted surveillance pathway are assessed at 9–12 months of age and again at 3.5 years old. Beyond 3.5 years, ongoing monitoring may occur, and does so on a case-by-case basis at the discretion of the audiologist. Assessments at 9–12 months include tympanometry and transient-evoked otoacoustic emissions (TEOAEs), with visual reinforcement audiometry completed if TEOAE pass criteria are not met. Assessments at 3.5 years old include tympanometry, pure tone audiometry and TEOAEs if required. Children with a syndrome associated with hearing loss or craniofacial abnormality have an additional audiology assessment within 6 weeks of passing the newborn hearing screen before progressing to the targeted surveillance pathway. Testing at this “Early” targeted surveillance appointment includes ABR, TEOAEs and high frequency tympanometry and was established in 2012 based on evidence that infants with syndromes and craniofacial anomalies are at increased risk of developing a PNHL at an early age (Beswick et al. 2013).
Outcomes of primary powered endoscopic dacryocystorhinostomy in syndromic congenital nasolacrimal duct obstruction
Published in Orbit, 2020
Swati Singh, Dinesh Selva, Arpita Nayak, Alkis Psaltis, Mohammad Javed Ali
This paper highlights the successful outcomes of primary powered endoscopic DCR in patients with syndrome-related CNLDO. A good exposure of the fundus of the sac, full-length sac marsupialization with a 360-degree mucosa to mucosa approximation to promote primary intention healing yields a success rate of 95.4% in challenging scenarios. Syndromic and complex CNLDO represents 2.8–12% of all CNLDOs with reported outcomes from probing or intubation alone ranging from 0–58%.1–3,12 Endonasal DCR in pediatric population has shown good outcomes, with more than 90% of patients having significant improvement of symptoms.4,6 However, the success rates fall in patients with craniofacial syndromes. Nuaimi et al. reported higher success in children with no craniofacial abnormality in their series of 17 eyes following endoscopic DCR.9 Two out of three patients with Down syndrome had residual epiphora outdoors. Jones and colleagues evaluated outcomes of endoscopic DCR with intubation in a cohort of 34 patients, out of which 7 (11 eyes) had syndromic CNLDO.13 One of 11 (9%) eyes of patients with syndromic or craniofacial anomaly showed complete cure following DCR and 36% had improvement of symptoms. A retrospective analysis of 91 consecutive pediatric powered endoscopic DCR had 5 eyes with anatomical failure, of which two were from the syndromic subset.6 The final anatomical and functional success rate in the current series was 100% after one revision surgery.
CT imaging features of paranasal sinuses in children with primary ciliary dyskinesia
Published in Acta Oto-Laryngologica, 2022
Huiying Lyu, Zhuoyao Guo, Chao Chen, Bo Duan, Zhengmin Xu, Wenxia Chen
The control group was 17 patients (13 males and 4 females) with non-PCD chronic rhinosinusitis (CRS) who accepted maxillary balloon catheter dilation in our hospital. Patients with adenotonsillar hypertrophy, cystic fibrosis, or craniofacial abnormality were excluded. Their CT scans before surgery were included into the study. The mean age was 8.1 ± 2.2 years, with a range of 4–13 years. The distribution of age and sex between the two groups has no statistically significant difference (p<.05).