Submucous cleft palate: an often-missed diagnosis.

This study aimed to investigate the age at diagnosis, palatal characteristics, and symptoms of submucous cleft palate (SMCP) and to compare the speech outcomes between 3 operative techniques for primary repair of SMCP.It was a retrospective review of 92 patients diagnosed with SMCP between 1994 and 2008, where patients were treated with 1 of 3 surgical procedures: double opposing z-palatoplasty, radical intravelar veloplasty, or pharyngeal flap.The need for a second procedure was considered a primary outcome measure, with operative failure defined by the need for a secondary operation. Postoperative speech was evaluated perceptually using the Great Ormond Street Speech Assessment.We found that SMCP was diagnosed at a mean age of 3.6 years. At diagnosis, 8% were asymptomatic, 67% had abnormal speech, 49% had recurrent otitis media with effusions, and 47% had hearing loss. Ear, nose, and throat surgery was performed on 37% without the diagnosis of SMCP being made. Subjective impression of a short palate was a predictor for secondary surgery (P < 0.02). Age at repair did not affect velopharyngeal insufficiency outcome; however, repair after 18 months of age led to a higher likelihood of developing articulatory speech errors resulting in the need for more speech therapy.In conclusion, the triad of features of SMCP is well recognized, but our study reveals that a high percentage is seen by physicians who have failed to make the diagnosis despite signs and symptoms being evident. Surgical correction is successful regardless of technique and age, but earlier recognition to prevent speech impairment should be sought.

Speech and language therapy interventions for children with cleft palate: a systematic review.

Objective : (1) To examine the evidence for the effectiveness of differences in timing and type of speech and language therapy for children with cleft palate with or without a cleft lip and (2) to identify types of interventions assessed. Design : Nine databases, including MEDLINE and EMBASE, were searched between inception and March 2011 to identify published articles relating to speech and language therapy for children with cleft palate with or without cleft lip. Studies that included at least 10 participants and reported outcome measures for speech and/or language measures were included. Studies where the experimental group had less than 90% of children with cleft palate with or without cleft lip were excluded. Two reviewers independently completed inclusion assessment, data extraction, and risk of bias assessment for all studies identified. Results : A total of 17 papers were evaluated: six randomized control trials and 11 observational studies. Studies varied widely on risk of bias, intervention used, and outcome measures reported. None of the studies had a low risk of bias. In terms of intervention approaches, seven studies evaluated linguistic approaches and 10 evaluated motor approaches. Outcomes measures did not support either approach over the other, and based on data reported it was difficult to ascertain which approach is more effective for children with cleft palate with or without cleft lip. Conclusions : The review found little evidence to support any specific intervention. Key uncertainties need to be identified and adequately powered, methodologically rigorous studies conducted to provide a secure evidence base for speech-language therapy practice in children with cleft palate with or without cleft lip.

GRIN2A: an aptly named gene for speech dysfunction.

OBJECTIVE: To delineate the specific speech deficits in individuals with epilepsy-aphasia syndromes associated with mutations in the glutamate receptor subunit gene GRIN2A. METHODS: We analyzed the speech phenotype associated with GRIN2A mutations in 11 individuals, aged 16 to 64 years, from 3 families. Standardized clinical speech assessments and perceptual analyses of conversational samples were conducted. RESULTS: Individuals showed a characteristic phenotype of dysarthria and dyspraxia with lifelong impact on speech intelligibility in some. Speech was typified by imprecise articulation (11/11, 100%), impaired pitch (monopitch 10/11, 91%) and prosody (stress errors 7/11, 64%), and hypernasality (7/11, 64%). Oral motor impairments and poor performance on maximum vowel duration (8/11, 73%) and repetition of monosyllables (10/11, 91%) and trisyllables (7/11, 64%) supported conversational speech findings. The speech phenotype was present in one individual who did not have seizures. CONCLUSIONS: Distinctive features of dysarthria and dyspraxia are found in individuals with GRIN2A mutations, often in the setting of epilepsy-aphasia syndromes; dysarthria has not been previously recognized in these disorders. Of note, the speech phenotype may occur in the absence of a seizure disorder, reinforcing an important role for GRIN2A in motor speech function. Our findings highlight the need for precise clinical speech assessment and intervention in this group. By understanding the mechanisms involved in GRIN2A disorders, targeted therapy may be designed to improve chronic lifelong deficits in intelligibility.