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Prenatal Diagnosis and Screening for Aneuploidy
Published in Vincenzo Berghella, Obstetric Evidence Based Guidelines, 2022
Sarah Harris, Angie Jelin, Neeta Vora
Characteristic facies, cardiovascular defects in 85%, most are VSD. Cleft of secondary palate, may be submucous cleft or velopharyngeal incompetence. Nasal reflux in infants. Transient neonatal hypocalcemia. Hypotonia. Immune system dysfunction. Postnatal growth delay. Developmental delay, learning disability, and psychological problems, especially in adolescence. Hypernasal speech.
Voice and Speech Production
Published in John C Watkinson, Raymond W Clarke, Terry M Jones, Vinidh Paleri, Nicholas White, Tim Woolford, Head & Neck Surgery Plastic Surgery, 2018
Paul Carding, Lesley Mathieson
Velopharyngeal incompetence or significant lowering of the soft palate will result in a hypernasal speech quality. In more extreme cases, audible nasal air escape can be heard during speech. There is evidence to suggest that listeners tend to associate negative personal attributes to individuals with hypernasal speech.10 Structural abnormalities such as a cleft palate or submucosal cleft often result in marked hypernasality. Conversely, an inability to produce appropriate nasal resonance (especially for sounds m, n and ng) will result in hyponasal speech quality. This is, of course, most likely to occur in space-occupying conditions of the nasopharynx. Removal of the space-occupying lesion or tissue may result in hypernasality although this is likely to be temporary in most cases. A significant but poorly investigated possible complication of the uvulopalatopharyngoplasty (UPP) surgical procedure is the resultant hypernasal speech.11
Cleft Lip and Palate
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
David M. Wynne, Louisa Ferguson
Velopharyngeal insufficiency (VPI) can occur in children with a repaired cleft palate, those with a submucous cleft and in children without any obvious palatal abnormalities. It can also occur after adenoidectomy, with a reported clinically significant incidence of between 1 in 1500 and 1 in 3000. Stigmata of a submucous cleft are bifid uvula, zona pellucida and hard palate notch, all of which should be examined for at the time of adenoidectomy. VPI occurring after adenoidectomy will spontaneously resolve in about 50% of cases.69 In order to achieve intelligible speech, the palate must be able to seal against the posterior pharyngeal wall and close off the nasopharynx. If this is impaired, nasal emissions and hypernasal speech can ensue. Around 20% of cleft palate children have persistent speech disorder following surgery, falling into the worst category of intelligibility.70
Normative nasalance scores in Tamil-speaking Indian children
Published in Logopedics Phoniatrics Vocology, 2022
Apar Pokharel, P. Naina, Swapna Sebastain, Kamran Asif Syed, Mary John, Ajoy Mathew Varghese
Resonance disorders are related to velopharyngeal and upper airway structure and function. Resonance disorders include hypernasality, hyponasality, cul-de-dac resonance, and mixed resonance disorders. A hypernasal speech is seen in clinical populations at risk of velopharyngeal insufficiency such as cleft palate or neuromuscular dysfunction, whereas a hyponasal voice is seen in the population with reduced permeability of the upper airways like nasal obstruction due to adenotonsillar hypertrophy. The speech pathologist has an essential role in identifying and diagnosing the oronasal balance changes in different clinical populations, in order to seek appropriate treatment [1,2]. Resonance disorders especially hypernasality can significantly affect speech quality and draw negative attention from listeners [3].
Treatment of active nasal fricatives substituting /s/ in young children with normal palatal function using motor-based intervention
Published in International Journal of Speech-Language Pathology, 2021
Liselotte Kjellmer, Liisi Raud Westberg, Anette Lohmander
Participants were recruited from children referred within a two-year period to the speech-language pathology clinic at a university hospital in Sweden for examination of suspected velopharyngeal insufficiency and hypernasal speech. Eligible to participate in the study were children between 4 and 6 years of age, who were substituting the oral /s/-sound with an active nasal fricative. All children who had an absent history of cleft palate, no signs of submucous cleft palate and who exhibited the particular articulation error were offered the treatment program as part of the regular clinical routine. For the participating children, the actual articulation error, active nasal fricative production substituting /s/, was diagnosed for the first time at the university clinic. Five children met the inclusion criteria and had caregivers agreeing to study participation. Subsequent to study start, two children were excluded since treatment was discontinued due to lack of motivation and cooperation in treatment, both in the clinic and at home. The three remaining participants, who took part in the study, included two boys, Peter and Tom, and one girl, Anna (fictitious names).
Bilateral Sixth Nerve Palsy and Nasal Voice in Two Sisters as a Variant of Guillan–Barré Syndrome
Published in Neuro-Ophthalmology, 2018
Francesco Pellegrini, Margaret Wang, Napoleone Romeo, Andrew G. Lee
The “classic” ophthalmoplegic pattern in MFS is a symmetric paresis of upgaze and progressive impairment of horizontal gaze,4 although ocular motor patterns can be variable.8 There can be an asymmetric ophthalmoplegia, abduction or adduction palsies, third nerve palsies, and even an “inverse” MFS with bilateral ptosis and preserved eye movements. Patients can also have central ocular motor signs such as impaired smooth pursuit and vestibulo-ocular reflex cancellation, and sometimes even present with impaired vestibulo-ocular responses with otherwise normal eye movements.9 Patients can have gaze-evoked, dissociated abducting, convergence retraction, or rebound nystagmus. Other cranial nerves may be affected, particularly the seventh nerve with subsequent facial palsy. An “ophthalmoplegia without ataxia” variant of this condition has also been described4 and should be considered in patients presenting with bilateral sixth nerve palsies. Other associated signs and symptoms may include dysesthesia in the limbs, dysphagia, ptosis, and bilateral dilated pupils with photophobia.10 Rhinolalia aperta (or hypernasal speech) is usually indicative of either a structural or neurological disorder affecting the larynx11 and it has been described in MFS.11,12