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Atlantoaxial instability (AAI) occurs in 15% of children with Trisomy 21. Health supervision guidelines were revised by the American Academy of Pediatrics in 2011 to reflect advances in care for children with special health care needs (CSHCN). Previous guidelines recommended cervical spine radiological screenings in preschool years to evaluate for atlantoaxial instability. For patients with negative screening, re-screening was recommended if they wished to compete in the Special Olympics, or became symptomatic. We present the case of an adolescent who developed a symptomatic atlantoaxial dislocation despite previous negative radiological screening at the age three (under the 2001 guidelines). This case report highlights the revisions in the 2011 guidelines for health supervision and anticipatory guidance. It underlines the need for a high index of suspicion if symptoms develop. It also addresses the need for a medical home for CSHCN, with health care providers who know the child's baseline health status.

Objective: Cleft palate increases the risk of chronic middle ear disease and hearing loss. The goal of this report was to determine which of two palate surgeries and which timing of palate surgery were associated with better otologic and audiologic outcomes in children with unilateral cleft lip and palate at 5 to 6 years of age., Design: Subjects were randomly assigned to the von Langenbeck with intravelar veloplasty or Furlow palate repair, to palate surgery at 9 to 12 months or 15 to 18 months of age, and to the Spina or Millard lip repair., Setting: Centralized, tertiary care craniofacial treatment center., Patients: A total of 673 infants with unilateral cleft lip and palate., Interventions: Palate and lip were repaired using established techniques. Serial otoscopic and audiometric evaluations were performed., Main Outcome Measures: Hearing and otoscopic findings at 5 to 6 years old., Results: There were 370 children available for analysis. Hearing and need for tympanostomy tube placement did not differ by palatoplasty, age at palatoplasty, cheiloplasty, or surgeon. Risk of developing cholesteatoma or perforation was higher with Millard cheiloplasty (odds ratio  =  5.1, 95% confidence interval  =  1.44 to 18.11, p  =  .012). Type and age at palatoplasty were not significantly associated with either the rate of developing these sequelae or the rate of achieving bilaterally normal hearing and ear examinations., Conclusions: Type of palatoplasty did not influence otologic and audiologic outcomes in 5- to 6-year-olds with unilateral cleft lip and palate. The potential influence of lip repair on otologic outcomes warrants further investigation.

PURPOSE: To examine information that parents of children with life-limiting conditions want to discuss with children's physicians to assist decision-making, and whether the desire for this information is associated with parents' trust in physicians. STUDY DESIGN: A cross-sectional study using a telephone survey. PATIENTS AND METHODS: Subjects comprised a random sample of 266 parents whose children were enrolled in Florida's Medicaid Program. Parents were asked if they wanted to discuss information related to their children's treatment, including quality of life (QOL), pain relief, spiritual beliefs, clinical diagnosis/laboratory data, changes in the child's behavior due to treatment, changes in the child's appearance due to treatment, chances of recovery, and advice from the physician and family/friends. The Wake Forest Physician Trust Scale was used to measure parents' trust in physicians. We tested the relationships between parents' age, race/ethnicity, education, parent-reported children's health status, and the desired information. We also tested whether the desire for information was associated with greater trust in physicians. RESULTS: Most parents wanted information on their children's QOL (95%), followed by chance of recovery (88%), and pain relief (84%). Compared with nonHispanic whites, nonHispanic blacks and Hispanics showed a greater desire for information and a chance to discuss QOL information had greater trust in their children's physicians than other information after adjusting for covariates (P < 0.05). CONCLUSIONS: Among children with life-limiting conditions, QOL is the most frequently desired information that parents would like to receive from physicians as part of shared decision-making. Parents' desire for QOL information is associated with greater trust in their children's physicians.

Objective: Given that pediatricians cite low competency in developmental screening, this study aims to effectively teach screening to residents., Design: Using a quasi-experimental design, residents received an educational module and one-on-one teaching of 3 validated developmental screeners (Denver II, ASQ [Ages and Stages Questionnaire], and PEDS [Parents' Evaluation of Developmental Status]), with subsequent independent use with all 3 screeners with their own continuity patients. Outcome measures included changes in knowledge, skills, and preferences., Results: All residents achieved significantly increased skills with all screeners. They strongly preferred the ASQ (70%), citing that this taught them normal (30.2%) and pathological (27.9%) development while negatively noting time (72.1%), scheduling issues (30.2%), and difficulties with child cooperation (20.9%). Knowledge specifics did not significantly increase., Conclusions: In-depth developmental screening education revealed marked improvement in skills and preferences. These evaluations led to full adoption of the ASQ in resident clinics. Future research must test if effective development teaching in residency leads to increased routine screenings in practice.

Objective: To study the growth of children with complete unilateral cleft lip and palate (UCLP) from birth to 2 years of age and to construct specific UCLP growth curves., Design: Physical growth was a secondary outcome measure of a National Institutes of Health-sponsored longitudinal, prospective clinical trial involving the University of Florida (United States) and the University of São Paulo (Brazil)., Patients: Six hundred twenty-seven children with UCLP, nonsyndromic, both genders., Methods: Length, weight, and head circumference were prospectively measured for a group of children enrolled in a clinical trial. Median growth curves for the three parameters (length, weight, head circumference) were performed and compared with the median for the National Center for Health Statistics (NCHS) curves. The median values for length, weight, and head circumference at birth and 6, 12, 18, and 24 months of age were plotted against NCHS median values and statistically compared at birth and 24 months., Setting: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, Brazil (HRAC-USP)., Results: At birth, children of both genders with UCLP presented with smaller body dimensions in relation to NCHS median values, but the results suggest a catch-up growth for length, weight, and head circumference for girls and for weight (to some degree) and head circumference for boys., Conclusions: Weight was the most compromised parameter for both genders, followed by length and then head circumference. There was no evidence of short stature. This study established growth curves for children with UCLP.

Background: The risk of neural tube defects (NTDs) is significantly reduced by supplemental folic acid. NTD risk may be associated with impaired absorption of polyglutamyl folate, the primary form of naturally occurring food folate, and of folic acid in supplements or fortified food. Stable-isotope methods provide the specificity needed to test this hypothesis., Objective: We determined whether women who had an NTD-affected pregnancy had a reduced ability compared with control women to absorb polyglutamyl folate relative to folic acid., Design: Healthy, nonpregnant women with a history of an NTD-affected pregnancy (cases; n = 11) and control women (n = 11) were administered an oral dose containing a mixture of [(2)H]pteroylpentaglutamate ([(2)H(2)]PteGlu(5); 233 nmol) and [(13)C]pteroylmonoglutamate ([(13)C(5)]PteGlu(1); 567 nmol) after a 30-d saturation protocol (2 mg unlabeled folic acid/d). Relative extents of absorption were evaluated by urinary excretion of (2)H(2)- and (13)C(5)-labeled folates 48 h postdose., Results: During the first 24 h postdose, cases excreted less (f1.gif" BORDER="0"> +/- SD) [(2)H(2)]PteGlu(5) (21 +/- 12% compared with 37 +/- 19%; P = 0.01) and [(13)C(5)]PteGlu(1) (17 +/- 8% compared with 31 +/- 14%; P = 0.007) than did controls. No significant differences between cases and controls were detected in the percentage of [(2)H(2)]PteGlu(5) or [(13)C(5)]PteGlu(1) excreted during the second 24 h postdose or when the data were averaged over 48 h. However, excretion of the [(2)H(2)]folates tended to be lower in cases than in controls over the 48-h period (33 +/- 13% compared with 45 +/- 26%; P = 0.21). A similar trend (P = 0.29) for lower excretion of [(13)C(5)]folates in cases was also observed (31 +/- 16% compared with 39 +/- 17%). The ratio of urinary [(2)H(2)]folates to [(13)C(5)]folates did not differ significantly between cases and controls., Conclusion: These data suggest the need for a larger-scale study using stable-isotope methods to further investigate this hypothesis.

Objective: This study was undertaken by several members of the University of Florida Craniofacial Center to assess the results of palatoplasty performed by the method devised by Larisa Y. Frolova, M.D. in 1971., Design: The assessment was based on evaluation of each subject's speech and velopharyngeal function through perceptual measures, nasometry, and video-nasendoscopy., Setting: The study took place at the National Pediatric Center for Congenital Maxillofacial Pathology, Moscow, Russia, under the auspices and with the cooperation of Dr. Frolova, director of the program., Subjects: One hundred twelve children (40 girls and 72 boys; age range, 4 to 10 years; mean age, 7.5 years) with repaired cleft palate who had undergone palatoplasty 2 to 4 years earlier and had no secondary surgery were randomly selected from the center's clinical files by the staff. Subjects with known conditions that could jeopardize normal speech development were excluded., Methods: Each subject was assessed for speech and velopharyngeal function with a battery of perceptual measures and videonasendoscopy., Results: The percentage of subjects judged to have normal resonance was 55.5%. An additional 9.5% of the subjects judged to be hyponasal increased the rate of nonhypernasal outcome to 64%., Conclusions: The Furlow double-Z palatoplasty has had an increasing rate of success (up to 87%), whereas the Frolova technique has a success rate of only 55% to 65%.

Objective: To evaluate the stature of Russian children with cleft lip and palate (CLP)., Design: One hundred twelve Russian children predominantly with repaired unilateral CLP 4 through 10 years of age underwent studies including height measurement, physical examinations, and record review. Children with health concerns that could affect growth were excluded. U.S. growth data from the National Center for Health Statistics (NCHS) and Russian parental heights were used in the absence of Russian growth norms., Results: Based on U.S. norms, the distribution curve for heights for the Russian children was largely confined to the +1 to -1 standard deviation (SD) range. Sixty-two percent of the Russian children had heights below the 50th percentile for American female and male children of the same age. The proportion of children found outside the +1 to -1 SD range approximated the proportion expected statistically for the general population, with 14.4% < -1 SD (16th percentile) and 12% > +1 SD (84th percentile). A total of 3.6% of the children ranked below the third percentile, which is close to the expected 3%. Russian parents' (n = 209) mean heights were 0.5 SD below NCHS's 50th percentile values for adults., Conclusion: These results indicate that there is no increased risk of true short stature in 4- to 10-year-old Russian children with repaired CLP.

Objective: In this study, researchers evaluated the otologic and audiologic status of 112 children with repaired cleft lip and palate who had received primary palatal repair by means of Frolova palatoplasty, a surgical technique developed by Dr. Larisa Y. Frolova, founder and director of the National Pediatric Center for Congenital Maxillofacial Pathology, Moscow, Russia., Design: Results of hearing thresholds and tympanograms for these Russian children were compared with data previously reported from a group of 48 children and adults with repaired cleft lip and palate at the University of Florida Craniofacial Center, Gainesville, Florida., Results: There were no substantial differences in hearing thresholds between the two groups, which was surprising in view of the vast differences between middle ear management techniques used in Russia and the United States., Conclusions: Considering these findings and the growing body of literature favoring a more conservative approach to the management of middle ear effusion in infants with cleft lip and palate, a reexamination of otologic strategies in the United States seems advisable.

Velo-cardio-facial syndrome, DiGeorge syndrome, conotruncal anomaly face syndrome, tetralogy of Fallot, and pulmonary atresia with ventricular septal defect are all associated with hemizygosity of 22q11. While the prevalence of the deletions in these phenotypes has been studied, the frequency of deletions in patients presenting with velopharyngeal insufficiency (VPI) is unknown. We performed fluorescence in situ hybridization for locus D22S75 within the 22q11 region on 23 patients with VPI (age range 5-42 years) followed in the Craniofacial Clinic at the University of Florida. The VPI occurred either as a condition of unknown cause (n=16) or as a condition remaining following primary cleft palate surgery (n=7). Six of sixteen patients with VPI of unknown cause and one of seven with VPI following surgery had a deletion in the region. This study documents a high frequency of 22q11 deletions in those presenting with VPI unrelated to overt cleft palate surgery and suggests that deletion testing should be considered in patients with VPI.