Patients require information on the impact and prognosis for their swallowing ability. There was a general preference for verbal information, from someone knowledgeable about dysphagia. However, there are also individual preferences for the manner and pace at which this information is delivered. Further research is indicated to explore ways of providing information that is individually tailored to patients' needs and preferences.
Direct 1:1 intervention with an SLT can be effective for all areas of language for older children with (D)LD, regardless of their gender, receptive language or ASD status, or age. This adds to the relatively limited evidence base regarding the effectiveness of direct SLT intervention for school-aged children with (D)LD and for children with receptive language impairments. If direct 1:1 intervention can be effective with this hard-to-treat group, it may well also be effective with younger children with (D)LD. Thus, direct SLT services should be available for school-aged children with (D)LD, including older children and adolescents with pervasive difficulties.
Background: Pfeiffer syndrome is associated with a genetic mutation of the FGFR2 (or more rarely, FGFR1) gene, and features the combination of craniosynostosis, midface hypoplasia, broad thumbs and broad great toes. Previous research has identified a wide spectrum of clinical phenotypes in patients with Pfeiffer syndrome. This study aimed to investigate the multifactorial considerations for speech, language, hearing and feeding development in patients with severe geneticallyconfirmed Pfeiffer syndrome.Methods: A 23-year retrospective case-note review of patients attending the Oxford Craniofacial Unit was undertaken. Patients were categorized according to genotype. Patients with mutations located in FGFR1, or outside the FGFR2 IgIII domainhotspot, or representing known Crouzon/Pfeiffer overlap substitutions were excluded. Twelve patients with severe FGFR2-associated Pfeiffer syndrome were identified.Results: Patients most commonly had pansynostosis (n=8) followed by bicoronal (n=3), and bicoronal and sagittal synostosis (n=1). Seven patients had a Chiari I malformation. Four patients had a diagnosis of epilepsy. Ten patients had with hydrocephalus necessitating ventriculoperitoneal shunt insertion.Feeding difficulties were common (n=10/12) and multifactorial. In 5/12 cases, they were associated with pansynostosis, hydrocephalus, tracheostomy and tube feeding in infancy.Hearing data were available for 10 patients, of whom 9 had conductive hearing loss, and 8 required hearing aids. Results indicated that 3/4 patients had expressive language difficulties, 3/4 had appropriate receptive language skills. 6/12 patients had a speech sound disorder and abnormal resonance. Conclusion:This study has identified important speech, language, hearing and feeding issues in patients with severe FGFR2-associated Pfeiffer syndrome. Results indicate that a high rate of motor-based oral stage feeding difficulties, and pharyngeal stage swallowing difficulties necessitating regular review by specialist craniofacial speech and language therapists
Apert syndrome (AS) is caused by the heterozygous presence of 1 of 2 specific missense mutations of the fibroblast growth factor receptor 2 (FGFR2) gene. The 2 adjacent substitutions, designated p.Ser252Trp (S252W) and p.Pro253Arg (P253R), account for more than 98% of cases. Previous research has identified elevated hearing difficulties and incidence of cleft palate in this population. However, the influence of FGFR2 genotype on the speech, language, and communicative participation of children with AS has yet to be examined. Methods: A retrospective case note analysis was completed for all patients with a genetically-confirmed Apert mutation who attended the Oxford Craniofacial Unit over a 43-year period (1978-2020). Medical records were analyzed for speech, language, hearing, and communication data in detail. The therapy outcome measures, based on the World Health Organization International Classification of Functioning, Disability, and Health was used to classify patient's communicative participation. Results: The authors identified 55 AS patients with geneticallyconfirmed mutation of the FGFR2 gene. One patient with a S252F mutation was excluded. There were 31 patients with the S252W mutation (male ¼ 14; female ¼ 17), age range of last hearing assessment (1-18 years), 64% (18/28) of patients had a cleft palate (including bifid uvula), 15 patients had conductive hearing loss, 1 patient had mixed hearing loss, 18 had otitis media with effusion (4 of whom had a cleft palate); 88% (21/24) of patients had receptive language difficulties, 88% (22/25) of patients had expressive language difficulties, 96% (27/28) of patients had a speech sound disorder. There were 23 patients with the P253R mutation (male ¼ 13; female ¼ 10); age range of last hearing assessment (1-13 years), 35% (8/23) patients had a cleft palate (including bifid uvula), 14 patients had a conductive hearing loss, 17 had otitis media with effusion (2 of whom had a cleft palate). Results indicated that 85% (17/20) of patients had receptive language difficulties, 80% (16/20) had expressive language difficulties, 100% (21/21) had a speech sound disorder. The S252W mutation was significantly-associated with the presence of cleft palate (including bifid uvula) (P ¼ 0.05).Data about the cumulative impact of all of these factors for communicative participation using the therapy outcome measures were available for 47 patients: (30 S252W; 17 P253R). Patients with a S252W mutation had significantly more severe difficulties with communicative participation when compared to individuals with a P253R mutation (P ¼ 0.0005) Cochran-Armitage trend test. Conclusions: Speech, language, communicative participation, and hearing difficulties are pervasive in patients with AS. The severity and functional impact of these difficulties are magnified in patients with the S252W mutation. Results reinforce the importance of considering patients with AS according to genotype.
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