Speech Outcomes and Rates of Secondary Speech Surgery from Childhood to Skeletal Maturity Following Modified-Furlow Palatoplasty.

BACKGROUND: This study updates our institutional experience with modified Furlow palatoplasty, evaluating speech outcomes and incidence of secondary speech surgery throughout development and at skeletal maturity. METHODS: Nonsyndromic patients undergoing primary modified Furlow palatoplasty between 1985 and 2005 with post-operative speech evaluations were retrospectively reviewed. Secondary speech surgery and Pittsburgh Weighted Speech Scale (PWSS) scores prior to secondary speech or orthognathic surgeries were assessed in the 5-7, 8-11, 12-14, and 15+ age groups and analyzed by Veau cleft type. RESULTS: Five hundred fifty-one patients with 895 total speech assessments were analyzed. Of 364 patients followed to age 15 or older, 19.8% underwent secondary speech surgery. Speech assessment of patients aged 15 or older without prior secondary speech surgery showed competent velopharyngeal mechanisms in 77% of patients. PWSS nasal emission scores were worse in the 5-7 age range (p=0.02), while resonance scores remained stable throughout development (p=0.2). Patients with Veau type I or II clefts had worse overall PWSS classifications in the age 5-7 and 8-11 age groups (p=0.01, p=0.03), with greater odds of secondary speech surgery relative to those with Veau type III (OR 2.9, p<0.001) or IV clefts (OR 3.6, p=0.001). CONCLUSIONS: Most patients undergoing primary modified Furlow palatoplasty do not require secondary speech surgery and achieve socially acceptable speech at skeletal maturity. However, Veau type I and II clefts are associated with increased risk for early velopharyngeal dysfunction and secondary speech surgery. Incidence of secondary speech surgery was 19.8%, an increase from our previously reported rate of 8%.

Language Profiles of School-Aged Children with 22q11.2 Copy Number Variants.

Although it is known that copy number variants (CNVs) on chromosome 22, such as 22q11.2 deletion (22q11.2DS) and 22q11.2 duplication (22q11.2Dup) syndromes, are associated with higher risk for neurodevelopmental issues, few studies have examined the language skills across 22q11.2Dup nor compared them with the 22q11.2DS. The current study aims to characterize language abilities in school-aged children with 22q11.2Dup (n = 29), compared to age-matched children with 22q11.2DS (n = 29). Standardized language tests were administered, assessing receptive and expressive language skills across different language domains. Results indicate that children with 22q11.2Dup demonstrate significantly more language problems compared to the general population. Mean language skills were not significantly different among children with 22q11.2 CNVs in this cohort. While children with 22q11.2DS demonstrated language difficulties starting at the word level, the most common language problems in children with 22q11.2Dup started at the sentence level. Importantly, both expressive and receptive language as well as lexico-semantic and morphosyntactic domains were impaired in children with 22q11.2 CNVs. Early identification, therapeutic intervention, and follow-up of language impairments in children with 22q11.2Dup are recommended to support language development and to reduce longitudinal impact of language and communicative deficits.

Speech Outcomes Following Operative Management of Velopharyngeal Dysfunction (VPD) in Non-Syndromic Post-Palatoplasty Cleft Palate Patients.

OBJECTIVE: Approximately 30% of patients with a history of repaired cleft palate (CP) go on to suffer from velopharyngeal dysfunction (VPD). This study discusses the operative management of VPD and postoperative speech outcomes in a cohort of CP patients. SETTING: An academic tertiary pediatric care center. METHODS: Retrospective cohort study. PATIENTS: Patients with history of repaired CP (Veau I-IV) who underwent operative management of VPD between January 1st, 2010 and December 31st, 2020. Operative modalities were posterior pharyngeal flap (PPF), sphincter pharyngoplasty (SPP), Furlow palate re-repair, and buccal myomucosal flap palate lengthening (PL). OUTCOME MEASURES: The primary outcome measure is postoperative speech improvement evaluated by the Pittsburgh Weighted Speech Scale (PWSS). RESULTS: 97 patients met inclusion criteria. 38 patients with previous straight-line primary palatoplasty underwent Furlow re-repair; these patients were significantly younger (7.62 vs 11.14, P < .001) and were more likely to have severe VPD per PWSS (OR 4.28, P < .01, 95% CI 1.46-12.56) when compared to VPD patients with previous Furlow repair. 21.1% of these patients required an additional non-revisional VPD procedure. The remaining patients underwent a non-revision procedure (26 PPF, 22 SPP, 11 PL); all experienced significant (P < .001 on paired t-test) reductions in PWSS total and subgroup VPD severity scores without difference in improvement between operation types. SPP was statistically associated with all-cause complication (OR 2.79, 95% CI 1.03-7.59, P < .05) and hyponasality (OR 3.27, 95% CI 1.112-9.630, P < .05). CONCLUSION: Furlow re-repair reduced need for additional VPD operations. Speech outcomes between non-revisional operations are comparable, but increased complications were seen in SPP.

Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.

This review aimed to update the clinical practice guidelines for managing children and adolescents with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society, the international scientific organization studying chromosome 22q11.2 differences and related conditions, recruited expert clinicians worldwide to revise the original 2011 pediatric clinical practice guidelines in a stepwise process: (1) a systematic literature search (1992-2021), (2) study selection and data extraction by clinical experts from 9 different countries, covering 24 subspecialties, and (3) creation of a draft consensus document based on the literature and expert opinion, which was further shaped by survey results from family support organizations regarding perceived needs. Of 2441 22q11.2DS-relevant publications initially identified, 2344 received full-text reviews, including 1545 meeting criteria for potential relevance to clinical care of children and adolescents. Informed by the available literature, recommendations were formulated. Given evidence base limitations, multidisciplinary recommendations represent consensus statements of good practice for this evolving field. These recommendations provide contemporary guidance for evaluation, surveillance, and management of the many 22q11.2DS-associated physical, cognitive, behavioral, and psychiatric morbidities while addressing important genetic counseling and psychosocial issues.

Early language measures associated with later psychosis features in 22q11.2 deletion syndrome.

The 22q11.2 deletion syndrome (22q11DS) is associated with impaired cognitive functions and increased risk for schizophrenia spectrum disorders. Speech and language deficits are prominent, with evidence of decline anteceding emergence of psychosis. There is paucity of data examining language function in children with 22q11DS with follow-up assessment of psychosis spectrum (PS) symptoms. We examined the association between early language measures, obtained clinically, and PS status, obtained on average 10.1 years later, in 166 youths with 22q11DS, with repeated language testing in 48. Participants were administered the Preschool Language Scale (receptive/expressive), and/or, for school aged children, the Clinical Evaluation of Language Fundamentals (receptive/expressive), and age appropriate IQ tests. The structured interview for prodromal syndromes (SIPS) assessed PS symptoms. We found that performance on all preschool measures showed age associated decline, and males performed more poorly on core composite (receptive/expressive) and receptive language measures. For language assessment later in childhood, poorer performance was consistently associated with subsequent PS status. Furthermore, steeper age-related decline was seen in the PS group across language measures and marginally for full-scale IQ. These findings suggest that while preschool language testing is useful in characterizing performance decline in individuals with 22q11DS, it does not robustly differentiate those with subsequent PS from those without. However, language testing in the school age population can help identify individuals with 22q11DS who are at risk for psychosis. Such data are needed for elucidating a lifespan trajectory for affected individuals and may help understand pathways to psychosis applicable to the general population.

Orofacial Manifestations of Stickler Syndrome: An Analysis of Speech Outcome and Facial Growth After Cleft Palate Repair.

PURPOSE: The purpose of this study was to characterize airway problems, speech outcomes, and facial growth in patients with Stickler syndrome undergoing cleft palate repair. METHODS: A retrospective, longitudinal study was performed at the Children's Hospital of Philadelphia on 25 patients with Stickler syndrome and 53 nonsyndromic patients with clefts of the secondary palate repaired between 1977 and 2000. Airway problems were characterized by the incidence of Pierre Robin Sequence (PRS) and the necessity for surgical airway management. Speech was analyzed using the Pittsburgh weighted values for speech symptoms associated with velopharyngeal incompetence (VPI). Longitudinal anthropometric measurements represented up to 12 years of longitudinal cephalofacial growth. RESULTS: Seventy-two percent of patients with Stickler syndrome were diagnosed with PRS, 55.6% of whom required surgical airway management. Conversely, 20.8% of nonsyndromic patients were diagnosed with PRS (P < 0.0001), 18% of whom required surgical intervention (P < 0.05). Speech outcomes were poorer in patients with Stickler syndrome with 40% demonstrating borderline VPI and 13.3% demonstrating VPI, compared with 21.8% and 9.1%, respectively, in the nonsyndromic group. Both groups exhibited significantly shallower upper and mid facial depths and wider upper facial breadths when compared with normal standards of facial growth. Although there was a tendency toward decreased facial depths in patients with Stickler syndrome relative to nonsyndromic patients, the differences were nonsignificant. CONCLUSIONS: Patients with Stickler syndrome show significant potential for early airway compromise and a poorer prognosis for speech outcome after cleft palate repair. Their cephalofacial growth does not differ significantly from that of nonsyndromic cleft palate patients.

Defining Risk of Postoperative Obstructive Sleep Apnea in Patients With 22q11.2DS Undergoing Pharyngeal Flap Surgery for Velopharyngeal Dysfunction Using Polysomnographic Evaluation.

OBJECTIVE: To determine pre- and postoperative prevalence of obstructive sleep apnea (OSA) in patients with 22q11.2 deletion syndrome (DS) undergoing wide posterior pharyngeal flap (PPF) surgery for velopharyngeal dysfunction (VPD). DESIGN: Retrospective study using pre- and postoperative polysomnography (PSG) to determine prevalence of OSA. Medical records were reviewed for patients' medical comorbidities. Parents were surveyed about snoring. SETTING: Academic tertiary care pediatric hospital. PATIENTS: Forty patients with laboratory confirmed 22q11.2DS followed over a 6-year period. INTERVENTIONS: Pre- and postoperative PSG, speech evaluation, and parent surveys. MAIN OUTCOME MEASURE: Severity and prevalence of OSA, defined by obstructive apnea hypopnea index (OAHI), before and after PPF surgery to determine whether PPF is associated with increased risk of OSA. RESULTS: Mean OAHI did not change significantly after PPF surgery (1.1/h vs 2.1/h, P = .330). Prevalence of clinically significant OSA (OAHI ≥ 5) was identical pre- and postoperatively (2 of 40), with both cases having severe-range OSA requiring positive airway pressure therapy. All other patients had mild-range OSA. Nasal resonance was graded as severe preoperatively in 85% of patients. None were graded as severe postoperatively. No single patient factor or parent-reported concern predicted risk of OSA (OAHI ≥ 1.5). CONCLUSIONS: Patients with 22q11.2DS are medically complex and are at increased risk of OSA at baseline. Wide PPF surgery for severe VPD does not significantly increase risk of OSA. Careful perioperative planning is essential to optimize both speech and sleep outcomes.

Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management.

Purpose Speech and language disorders are hallmark features of 22q11.2 deletion syndrome (22qDS). Learning disabilities, cognitive deficits, palate abnormalities, velopharyngeal dysfunction, behavioral differences, and various medical and psychiatric conditions are also major features of this syndrome. The goal of this document is to summarize the state of the art of current clinical and scientific knowledge regarding 22qDS for speech-language pathologists (SLPs) and provide recommendations for clinical management. Method Best practices for management of individuals with 22qDS were developed by consensus of an expert international group of SLPs and researchers with expertise in 22qDS. These care recommendations are based on the authors' research, clinical experience, and literature review. Results This document describes the features of 22qDS as well as evaluation procedures, treatment protocols, and associated management recommendations for SLPs for the often complex communication disorders present in this population. Conclusion Early diagnosis and appropriate management of speech-language disorders in 22qDS is essential to optimize outcomes and to minimize the long-term effects of communication impairments. Knowledge of this diagnosis also allows anticipatory care and guidance regarding associated features for families, health care, and educational professionals.

Palatal evaluation and treatment in 22q11.2 deletion syndrome.

Palatal involvement occurs commonly in patients with 22q11.2 Deletion Syndrome (22qDS), and includes palatal clefting and velopharyngeal dysfunction in the absence of overt or submucous clefts. The reported incidence and distribution of palatal abnormalities vary in the literature. The aim of this article is to revisit the incidence and presenting features of palatal abnormalities in a large cohort of patients with 22qDS, summarize the surgical treatments performed in this cohort, and provide an overview of surgical treatment protocols and management guidelines for palatal abnormalities in this syndrome. Charts of 1,121 patients seen through the 22q and You Center at the Children's Hospital of Philadelphia were reviewed for palatal status, demographic factors, deletion size, and corrective surgical procedures. Statistical analysis was performed using Pearson's chi-squared test to identify differences between gender, deletion size, and palatal abnormality. Of the patients with complete evaluations, 67% were found to have a palatal abnormality. The most common finding was velopharyngeal dysfunction in 55.2% of patients, and in 33.3% of patients, this occurred in the absence of palatal clefting. There was no significant difference in the incidence of palatal abnormalities by gender; however, a difference was noted among race (p < 0.01) and deletion sizes (p < 0.01). For example, Caucasian and Asian patients presented with a much higher prevalence of palatal abnormalities, and conversely those with nested deletions presented with a much lower rate of palatal defects. Overall, 26.9% of patients underwent palatal surgery, and the most common indication was velopharyngeal dysfunction. Palatal abnormalities are a hallmark feature of 22q11.2 Deletion Syndrome; understanding the incidence, presenting features, and treatment protocols are essential for practitioners counseling and treating families affected with this disorder.

Management of velopharyngeal dysfunction in patients with 22q11.2 deletion syndrome: A survey of practice patterns.

OBJECTIVE: To determine demographics and practice patterns of surgeons treating velopharyngeal dysfunction (VPD) in patients with 22q11.2 deletion syndrome (22q11.2DS). METHODS: An anonymous electronic survey study was administered to the surgical membership of the American Cleft Palate-Craniofacial Association and the Society for Ear Nose and Throat Advances in Children. The survey queried surgeon demographics and differences in management practices for submucous cleft palate (SMCP), pharyngoplasty algorithms, and self-reported complications for nonsyndromic versus 22q11.2DS patients. RESULTS: 126 surveys were returned from 9 international regions with the majority from the United States (73%), followed by Western Europe (9.5%) and Canada (7.9%). Plastic surgery was the most common specialty (61.9%), followed by otolaryngology (27.8%). 88.1% reported fellowship training, and 33% completed multiple fellowships. Prior to proceeding with pharyngoplasty in 22q11.2DS patients, surgeons required the following assessments: speech evaluation (79.4%), velopharyngeal imaging (51.6%), cardiac evaluation (50.0%), carotid artery MRI (29.4%), and cervical spine x-rays (11.1%). Nasoendoscopy was the most common modality used for imaging the velopharynx. Overall, providers managed patients with 22q11.2DS similarly to nonsyndromic patients, with several significant exceptions including that they were more likely to perform SMCP repair alone as a first approach in nonsyndromic patients (p = 0.031) and posterior pharyngeal flap without SMCP repair in those with 22q11.2DS (p = 0.017). CONCLUSIONS: Practice patterns for the management of VPD in patients with 22q11.2DS vary across providers. Further collaborative studies are needed to develop optimal treatment paradigms for VPD in patients with 22q11.2 DS.

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.

22q11.2 deletion syndrome (22q11.2DS) is a disorder caused by recurrent, chromosome-specific, low copy repeat (LCR)-mediated copy-number losses of chromosome 22q11. The Children's Hospital of Philadelphia has been involved in the clinical care of individuals with what is now known as 22q11.2DS since our initial report of the association with DiGeorge syndrome in 1982. We reviewed the medical records on our continuously growing longitudinal cohort of 1,421 patients with molecularly confirmed 22q11.2DS from 1992 to 2018. Most individuals are Caucasian and older than 8 years. The mean age at diagnosis was 3.9 years. The majority of patients (85%) had typical LCR22A-LCR22D deletions, and only 7% of these typical deletions were inherited from a parent harboring the deletion constitutionally. However, 6% of individuals harbored other nested deletions that would not be identified by traditional 22q11.2 FISH, thus requiring an orthogonal technology to diagnose. Major medical problems included immune dysfunction or allergies (77%), palatal abnormalities (67%), congenital heart disease (64%), gastrointestinal difficulties (65%), endocrine dysfunction (>50%), scoliosis (50%), renal anomalies (16%), and airway abnormalities. Median full-scale intelligence quotient was 76, with no significant difference between individuals with and without congenital heart disease or hypocalcemia. Characteristic dysmorphic facial features were present in most individuals, but dermatoglyphic patterns of our cohort are similar to normal controls. This is the largest longitudinal study of patients with 22q11.2DS, helping to further describe the condition and aid in diagnosis and management. Further surveillance will likely elucidate additional clinically relevant findings as they age.

Hearing Loss after Cardiac Surgery in Infancy: An Unintended Consequence of Life-Saving Care.

OBJECTIVES: To investigate the prevalence of hearing loss after cardiac surgery in infancy, patient and operative factors associated with hearing loss, and the relationship of hearing loss to neurodevelopmental outcomes. STUDY DESIGN: Audiologic and neurodevelopmental evaluations were conducted on 348 children who underwent repair of congenital heart disease at the Children's Hospital of Philadelphia as part of a prospective study evaluating neurodevelopmental outcomes at 4 years of age. A prevalence estimate was calculated based on presence and type of hearing loss. Potential risk factors and the impact of hearing loss on neurodevelopmental outcomes were evaluated. RESULTS: The prevalence of hearing loss was 21.6% (95% CI, 17.2-25.9). The prevalence of conductive hearing loss, sensorineural hearing loss, and indeterminate hearing loss were 12.4% (95% CI, 8.8-16.0), 6.9% (95% CI, 4.1-9.7), and 2.3% (95% CI, 0.6-4.0), respectively. Only 18 of 348 subjects (5.2%) had screened positive for hearing loss before this study and 10 used a hearing aid. After adjusting for patient and operative covariates, younger gestational age, longer postoperative duration of stay, and a confirmed genetic anomaly were associated with hearing loss (all P < .01). The presence of hearing loss was associated with worse language, cognition and attention (P <.01). CONCLUSIONS: These findings suggest that the prevalence of hearing loss in preschool children after heart surgery in infancy may be 20-fold higher than in the 1% prevalence seen in the general population. Younger gestational age, presence of a genetic anomaly, and longer postoperative duration of stay were associated with hearing loss. Hearing loss was associated with worse neurodevelopmental outcomes.

The Effect of Furlow Palatoplasty Timing on Speech Outcomes in Submucous Cleft Palate.

BACKGROUND: Because some patients with submucous cleft palate (SMCP) are asymptomatic, surgical treatment is conventionally delayed until hypernasal resonance is identified during speech production. We aim to identify whether speech outcomes after repair of a SMCP is influenced by age of repair. METHODS: We retrospectively studied nonsyndromic children with SMCP. Speech results, before and after any surgical treatment or physical management of the palate were compared using the Pittsburgh Weighted Speech Scoring system. RESULTS: Furlow palatoplasty was performed on 40 nonsyndromic patients with SMCP, and 26 patients were not surgically treated. Total composite speech scores improved significantly among children repaired between 3 and 4 years of age (P = 0.02), but not older than 4 years (P = 0.63). Twelve (86%) of 14 patients repaired who are older than 4 years had borderline or incompetent speech (composite Pittsburgh Weighted Speech Scoring ≥3) compared with 2 (29%) of 7 repaired between 3 and 4 years of age (P = 0.0068), despite worse prerepair scores in the latter group. Resonance improved in children repaired who are older than 4 years, but articulation errors persisted to a greater degree than those treated before 4 years of age (P = 0.01.) CONCLUSIONS: Submucous cleft palate repair before 4 years of age appears associated with lower ultimate rates of borderline or incompetent speech. Speech of patients repaired at or after 4 years of age seems to be characterized by persistent misarticulation. These findings highlight the importance of timely diagnosis and management.

Effect of congenital heart disease on 4-year neurodevelopment within multiple-gestation births.

OBJECTIVES: We sought to assess the effect of congenital heart disease requiring infant surgery with cardiopulmonary bypass on neurodevelopmental outcomes and growth at 4 years of age, while matching for gestational age, socioeconomic status, maternal gestational conditions, home environment, and parental intelligence by studying multiple-gestation births. METHODS: We performed within-family comparison of 14 multiple-gestation births in which 1 child had congenital heart disease requiring surgery with cardiopulmonary bypass at ≤6 months of age. Between 4 and 5 years of age, a comprehensive neurodevelopmental assessment was performed. Paired comparisons were conducted between siblings with and without heart defects using a series of nonparametric tests. RESULTS: On average, the children qualified as late preterm (mean gestational age 35.4 ± 2.6 weeks). At an average age of 4.8 ± 0.1 years, children with congenital heart disease weighed less than their siblings (median weight for age z score -0.4 vs 0.1, P = .02) and had worse performance for cognition (median full-scale IQ 99 vs 109, P = .02) and fine motor skills (median Wide Range Assessment of Visual Motor Ability, Fine Motor score 94.5 vs 107.5, P < .01). CONCLUSIONS: After controlling for socioeconomic status, home environment, parental intelligence, and gestational factors by using multiple-gestation births, congenital heart disease requiring surgery with cardiopulmonary bypass at ≤6 months of age is associated with lower weight, cognitive abilities and fine motor skills at 4 years of age.

Rates of autism and potential risk factors in children with congenital heart defects.

OBJECTIVE: Atypical development, behavioral difficulties, and academic underachievement are common morbidities in children with a history of congenital heart defects and impact quality of life. Language and social-cognitive deficits have been described, which are associated with autism spectrum disorders. The current study aimed to assess the rates of autism spectrum disorders in a large sample of children with a history of congenital heart defects and to assess medical, behavioral, and individual factors that may be associated with the risk of autism spectrum disorders. DESIGN: Participants included 195 children with a history of congenital heart defects, who are followed in a large-scale longitudinal study. Measures included behavioral data from 4-year-old neurodevelopmental evaluations and parent-report data from a later annual follow-up. RESULTS: Using established cutoffs on an autism spectrum disorder screener, children with congenital heart defects showed higher rates of "possible" autism spectrum disorders than national rates, (Chi-square Test of Equal Proportions), all Ps < .05. A stepwise variable selection method was used to create a "best prediction model" and multivariable logistic regression was used to identify variables predicting diagnostic status. Factors associated with diagnostic risk included medical (delayed sternal closure, prematurity, positive genetic findings), behavioral (cognitive, language, attention issues), and individual (socioeconomic, cultural/racial) variables. ROC analyses identified a cutoff of 7 to maximize sensitivity/specificity based on parent-reported diagnosis. CONCLUSIONS: Risk of autism spectrum disorder screening status in children with congenital heart defects was higher than expected from population rates. Findings highlight the need for referral to a specialist to assess the presence and severity of social-communication issues and congenital heart defects population-specific screening thresholds for children with concern for autism spectrum disorders.

Referential communication abilities in children with 22q11.2 deletion syndrome.

PURPOSE: This study describes the performance on a perspective- and role-taking task in 27 children, ages 6-13 years, with 22q11.2 deletion syndrome (22q11.2DS). A cross-cultural design comparing Dutch- and English-speaking children with 22q11.2DS explored the possibility of cultural differences. METHOD: Chronologically age-matched and younger typically developing (TD) children matched for receptive vocabulary served as control groups to identify challenges in referential communication. RESULTS: The utterances of children with 22q11.2DS were characterised as short and simple in lexical and grammatical terms. However, from a language use perspective, their utterances were verbose, ambiguous and irrelevant given the pictured scenes. They tended to elaborate on visual details and conveyed off-topic, extraneous information when participating in a barrier-game procedure. Both types of aberrant utterances forced a listener to consistently infer the intended message. Moreover, children with 22q11.2DS demonstrated difficulty selecting correct speech acts in accordance with contextual cues during a role-taking task. CONCLUSION: Both English- and Dutch-speaking children with 22q11.2DS showed impoverished information transfer and an increased number of elaborations, suggesting a cross-cultural syndrome-specific feature.

International Adoptees With Cleft Lip and/or Palate: Lessons Learned From a Growing Population.

BACKGROUND: International adoptees with cleft lip and palate (CLP) are a growing population in the United States. They represent a clinical challenge, presenting at various ages and stages of cleft repair. METHODS: A retrospective review of patients seen at the CLP Program at the Children's Hospital of Philadelphia (CHOP) between 1998 and 2012 with a history of international adoption was performed. Demographics, surgical histories, and long-term speech outcomes were reviewed. RESULTS: Seventy-four female and 77 male patients were evaluated. Patients were adopted at an average age of 2.3 years (range, 0.4-8.6 years); 80.8% (n = 122) of patients were adopted from China. The rate of international cleft adoption increased by approximately 1.5 patients per year (r = 0.7739, P < 0.001); 13.2% (n = 19) of all subjects with cleft palates had oronasal fistulas (ONFs) that required repair. The ONF rates for primary palatoplasties at CHOP were significantly lower compared to both preadoption repairs (P = 0.002) and postadoption repairs at outside hospitals (P = 0.01); 14.8% (n = 21) of all patients had secondary surgeries for velopharyngeal incompetence (VPI). Rates of secondary surgery for VPI were also significantly lower for primary palatoplasties at CHOP compared to both preadoption repairs (P = 0.0018) and postadoption repairs at outside hospitals (P = 0.0033). CONCLUSIONS: International adoptees with CLP are a growing population and are clinically challenging with high ONF rates and high secondary surgery rates for VPI. We recommend expedited repair of unoperated cleft palates in adoptees older than 18 months. Adopted patients with CLP should be rigorously evaluated for the need for speech therapy and secondary surgeries to correct for VPI.

Perioperative risk factors in patients with 22q11.2 deletion syndrome requiring surgery for velopharyngeal dysfunction.

Objective : To determine the prevalence of cardiac, cervical spine, and carotid artery abnormalities in patients with 22q11.2 deletion syndrome (22q11.2DS) undergoing surgery for velopharyngeal dysfunction (VPD), associations between the presence of these abnormalities, and whether these abnormalities caused changes in surgical management or perioperative complications. Design : Retrospective review. Setting : Tertiary pediatric hospital. Patients : Seventy patients with 22q11.2DS with complete preoperative cervical vascular and spine imaging and cardiac evaluation between 1998 and 2011. Main Outcome Measures : Incidence of cardiac, cervical spine, and vascular abnormalities; related perioperative complications; and resulting changes in surgical, anesthetic, or perioperative management plan. Results : Cardiac abnormalities occurred in 45 patients (64.3%), and 8 patients required cardiac anesthesia. Thirty-eight patients (54.3%) had at least one vascular abnormality of the neck, and 14% had medial deviation of the internal carotid artery. Surgery was not performed in one patient, and the surgical plan was altered in three patients because of carotid anomalies. Cervical spine abnormalities were found in 24 patients (34.3%); 8 patients demonstrated radiographic evidence of cervical instability and were treated with spinal precautions during surgery. The presence of one anomaly was not predictive of any other finding, and there were no complications related to the heart, cervical spine, or carotid arteries. Conclusions : Anomalies of the heart, cervical spine, and cervical vasculature occur frequently in 22q11.2DS, vary drastically in severity, and are impossible to predict based on other features of the syndrome. Preoperative diagnosis of these comorbidities with routine imaging can minimize the risk of avoidable surgical complications.

Long term speech outcomes following late cleft palate repair using the modified Furlow technique.

OBJECTIVES: Published reports and previous studies from our institution have reported worse overall speech results, including significantly higher rates of persistent articulation errors, in patients undergoing palatoplasty at age >18 months. This study further investigates the effects of late repair on long term speech outcomes. METHODS: A retrospective review was performed of non-syndromic patients undergoing primary palatoplasty at age >18 months between 1980 and 2006 at our institution. Longitudinal speech results were compared based on reason for late repair and age at repair. RESULTS: Forty-one patients were greater than 18 months of age at the time of palatoplasty, and 24 fit criteria for longitudinal data analysis. There was a statistically significant improvement in nasality scores at Time Point 1 for international adoptees compared to the non-adopted population (p=0.04). Patients with submucosal clefts were found to have significantly less severe nasal emission scores at Time Point 1 compared to those with overt clefts (p=0.04), but not at Time Point 2. There were no significant differences between scores if repair was performed between 18 and 36 months or >36 months, nor any difference in incidence of articulation errors between subgroups of patients with late repair at either Time Point. CONCLUSION: Our experience demonstrates that cleft palate repair after 18 months of age is associated with a significantly increased incidence of articulation errors associated with VPI, irrespective of reason for late repair, highlighting the persistence of learned compensatory behaviors in speech and the importance of proceeding with early repair.