Mental retardation affects 2-3% of the population and shows a high heritability. Neurodevelopmental disorders that include pronounced impairment in language and speech skills occur less frequently. For most cases, the molecular basis of mental retardation with or without speech and language disorder is unknown due to the heterogeneity of underlying genetic factors. We have used molecular karyotyping on 1523 patients with mental retardation to detect copy number variations (CNVs) including deletions or duplications. These studies revealed three heterozygous overlapping deletions solely affecting the forkhead box P1 (FOXP1) gene. All three patients had moderate mental retardation and significant language and speech deficits. Since our results are consistent with a de novo occurrence of these deletions, we considered them as causal although we detected a single large deletion including FOXP1 and additional genes in 4104 ancestrally matched controls. These findings are of interest with regard to the structural and functional relationship between FOXP1 and FOXP2. Mutations in FOXP2 have been previously related to monogenic cases of developmental verbal dyspraxia. Both FOXP1 and FOXP2 are expressed in songbird and human brain regions that are important for the developmental processes that culminate in speech and language. ©2010 Wiley-Liss, Inc.

Predicting the duration of poststroke dysphagia is important to guide therapeutic decisions. Guidelines recommend nasogastric tube (NGT) feeding if swallowing impairment persists for 7 days or longer and percutaneous endoscopic gastrostomy (PEG) placement if dysphagia does not recover within 30 days, but, to our knowledge, a systematic prediction method does not exist. OBJECTIVE To develop and validate a prognostic model predicting swallowing recovery and the need for enteral tube feeding. DESIGN, SETTING, AND PARTICIPANTS We enrolled participants with consecutive admissions for acute ischemic stroke and initially severe dysphagia in a prospective single-center derivation (2011-2014) and a multicenter validation (July 2015-March 2018) cohort study in 5 tertiary stroke referral centers in Switzerland. EXPOSURES Severely impaired oral intake at admission (Functional Oral Intake Scale score <5). MAIN OUTCOMES AND MEASURES Recovery of oral intake (primary end point, Functional Oral Intake Scale Ն5) or return to prestroke diet (secondary end point) measured 7 (indication for NGT feeding) and 30 (indication for PEG feeding) days after stroke. RESULTS In total, 279 participants (131 women [47.0%]; median age, 77 years [interquartile range, 67-84 years]) were enrolled (153 [54.8%] in the derivation study; 126 [45.2%] in the validation cohort). Overall, 64% (95% CI, 59-71) participants failed to recover functional oral intake within 7 days and 30% (95% CI, 24-37) within 30 days. Prolonged swallowing recovery was independently associated with poor outcomes after stroke. The final prognostic model, the Predictive Swallowing Score, included 5 variables: age, stroke severity on admission, lesion location, initial risk of aspiration, and initial impairment of oral intake. Predictive Swallowing Score prediction estimates ranged from 5% (score, 0) to 96% (score, 10) for a persistent impairment of oral intake on day 7 and from 2% to 62% on day 30. Model performance in the validation cohort showed a discrimination (C statistic) of 0.84 (95% CI, 0.76-0.91; P < .001) for predicting the recovery of oral intake on day 7 and 0.77 (95% CI, 0.67-0.87; P < .001) on day 30, and a discrimination for a return to prestroke diet of 0.94 (day 7; 95% CI, 0.87-1.00; P < .001) and 0.71 (day 30; 95% CI, 0.61-0.82; P < .001). Calibration plots showed high agreement between the predicted and observed outcomes. CONCLUSIONS AND RELEVANCE The Predictive Swallowing Score, available as a smartphone application, is an easily applied prognostic instrument that reliably predicts swallowing recovery. It will support decision making for NGT or PEG insertion after ischemic stroke and is a step toward personalized medicine.

Our population-based study indicates that audiological monitoring is insufficient in Switzerland, particularly for nonstudy patients. Clinicians must become more aware of the importance of full audiological monitoring.

Preterm newborn infants may suffer laryngeal injuries after multiple intubations and long-term mechanical ventilation. Former studies have focused on acute laryngeal injuries diagnosed by endoscopy, performed within the neonatal period. This retrospective case-control study aims to investigate the prevalence and clinical risk factors for voice disorders in former very low-birth-weight (< 1,500 g) infants (VLBW) at 1-year follow-up examinations. We screened former VLBW infants for presence of dysphonia at the corrected age of 1 year and compared cases with unaffected infants matched by birth weight and gestational age. Of the 843 former VLBW infants, admitted from January 1998 to May 2006, 18 subjects had persistent dysphonia. All cases had a birth weight below 1,000 g. Surgical ligation of a ductus arteriosus had been performed in ten infants. Duration of ventilation and number of intubations were not different between cases and controls, but a documented difficult intubation was a predictor of subsequent dysphonia. The rate of dysphonia at 1 year of life was 6.6% among formerly ventilated infants with birth weights <1,000 g (extremely low-birth-weight infants). Persistent dysphonia has to be added to the list of specific long-term consequences of extremely immature birth and given attention at follow-up examinations.

Wesentliche Voraussetzung für eine ungestörte Kindesentwicklung ist ein regelrechter Spracherwerb. Sprachentwicklungsstörungen (SES) im Kindesalter sind häufig. Für spezifische (isolierte) Sprachentwicklungsstörungen liegt die Prävalenz bei 6 – 8 %; hinzukommen SES, die mit anderen Störungen assoziiert sind. Da flächendeckende Sprachstandserfassungen im Kindergartenalter, die Kinder mit einem SES-Verdacht einer Diagnostik zuführen sollen, auch in Deutschland in den Blickpunkt rücken und eine erhebliche Unsicherheit in der Diagnosestellung von SES und der Verordnungspraxis für Sprachtherapie besteht, sollen die hier in gekürzter Form vorgestellten, überarbeiteten AWMF-Leitlinien der Deutschen Gesellschaft für Phoniatrie und Pädaudiologie ( Neumann et al., 2008 ) zum Verständnis der Pathogenese von SES, ihrer Begriffsbestimmung, Diagnostik und Therapie beitragen.