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To determine the proportion of children referred to academic medical centers with concerns about autism spectrum disorders (ASDs) who received a probable ASD diagnosis, identify factors predicting ASD diagnosis, and describe the children with ASD concerns who were not found to have autism.A total of 55 developmental-behavioral pediatricians (DBP) at 12 academic sites in the DBPNet research network recorded data on ≤15 consecutive new patients. They coded presumed diagnoses after their first visit with the child.Of 784 new visits, 324 (41%) had concern for ASD; of these, 221 (68%) were presumptively ASD+; 103 (32%) were ASD-. In a mixed model accounting for clustering within site and covariates significant in bivariate analysis, significant predictors of receiving a presumptive ASD diagnoses were socialization concerns, languages other than English spoken in the home, and coming for second opinion. Also concern for "other behavior problems" (not mood, oppositionality, anxiety, attention, or repetitive behaviors) predicted not receiving ASD diagnoses. This model was not clinically useful because it misclassified 26.9% of children. ASD- children4 years old had more language delay and less cognitive impairment and socialization concern than their ASD+ age peers. ASD- children ≥4 years old were more likely to have attention-deficit /hyperactivity disorder (ADHD) and learning disability with normal cognition than their ASD+ age peers.Two thirds of children referred to academic centers with concern for ASD received a presumptive diagnosis of ASD. While those with ASD were not easily distinguished from those without ASD at referral, virtually all children with ASD concerns had multiple DBP diagnoses made and required DBP follow-up care.

Objective To examine whether there are differences between non-Hispanic white (NHW) and nonwhite (NW) children in referral questions, evaluations, and diagnoses during developmental behavioral pediatrician (DBP) evaluations at academic medical centers and the potential role of socioeconomic factors in any disparities noted. Design/methods This observational study used survey data from 56 DBPs at 12 sites participating in DBPNet. Child race and ethnicity were obtained from DBP report. Mixed-model logistic and linear regression analyses controlling for site, provider, and socioeconomic proxy variables (insurance type, parent education, and language spoken at home) were used to compare groups on referral concerns, evaluation procedures, and diagnoses. Results Among the patients evaluated, 349 were NHW, 406 were NW (187 Hispanic, 135 black, 58 Asian/Pacific Islander, and 26 other/mixed), and 29 were missing race/ethnicity data. The mean waiting time controlling for site and provider was 20.4 weeks for NHW children and 20.5 weeks for NW children. Reasons for referral were similar in the NWH and NW groups, with only sleep problem concerns being more frequent among NHW children (9.2% vs 3.4% NW, p = 0.01). Patients also had similar evaluations in the 2 groups; the only differences found were that more NHW than NW children had genetic testing (33.1% vs 19.3%, p = 0.02), ophthalmology evaluations (8.7% vs 3.4%, p = 0.03), and psychopharmacologic evaluations (19.1% vs 9.7%, p = 0.008). Numbers and types of diagnoses did not vary by race/ethnicity. Conclusion This study suggests little inequality between NHW and NW children in wait time to care, reasons for referral, workup, or final diagnosis for initial DBP evaluation at these 12 academic DBP centers when socioeconomic factors are considered. Nevertheless, because differences in these related factors may be mechanisms through which racial/ethnic disparities can arise, it will be important to consider them in planning models and care protocols for underserved communities.

BACKGROUND It is unknown how insurance status affects elements of evaluation at developmental behavioral (DB) pediatric sites. OBJECTIVE To compare DB referrals, evaluation, and treatment for children with Medicaid and private insurance. DESIGN/METHODS Fifty-six developmental behavioral pediatricians at 12 sites recorded anonymous data on structured forms for ≤15 consecutive referrals. Children with Medicaid (n = 309) and private insurance (n = 393) were compared on sociodemographic factors, referral concerns, evaluation elements, and resulting diagnoses. All significant bivariate findings were verified in multivariable models controlling for site and sociodemographic characteristics. RESULTS Those with Medicaid were significantly less likely to be white (30% vs 63%) and to have parents who went beyond high school (50% vs 92%) and who spoke English (89% vs 97%) (all p < 0.001). Referral sources were similar, except that fewer children with Medicaid were self-referred (12% vs 22%; p < 0.01). Both groups presented with multiple concerns, ∼3/child, especially speech and language delays, autism spectrum disorder, and attention-deficit hyperactivity disorder. Children with Medicaid tended to present more often with concerns about other behavior problems (14% vs 7%; p = 0.05). Wait times to appointments were similar (∼20 weeks), and visits were over 2 hours in length. Only 1 of 92 services and recommendations differed significantly. CONCLUSION There were few differences in care, but most DB patients presented with multiple concerns and had complex evaluations. Regardless of the insurance type, they experienced long wait times that may be detrimental to therapeutic outcomes.

BACKGROUND AND OBJECTIVES: Developmental-behavioral conditions are common, affecting ∼15% of US children. The prevalence and complexity of these conditions are increasing despite long wait times and a limited pipeline of new providers. We surveyed a convenience sample of the developmental-behavioral pediatric (DBP) workforce to determine current practices, workforce trends, and future needs. METHODS: An electronic survey was e-mailed to 1568 members of the American Academy of Pediatrics Section on Developmental and Behavioral Pediatrics and Council on Children with Disabilities, the Society for Developmental and Behavioral Pediatrics, and the National Association of Pediatric Nurse Practitioners Developmental and Behavioral Mental Health Special Interest Group. RESULTS: The response rate was 48%. There were 411 fellowship-trained physicians, 147 nonfellowship-trained physicians, and 125 nurse practitioners; 61% were women, 79% were white, and 5% were Hispanic. Physicians had a mean of 29 years since medical school graduation, and one-third planned to retire in 3 to 5 years. Nurse practitioners were earlier in their careers. Respondents reported long wait times for new appointments, clinician burnout, increased patient complexity and up to 50% additional time spent per visit in nonreimbursed clinical-care activities. Female subspecialists spent more time per visit in billable and nonbillable components of clinical care. CONCLUSIONS: The DBP workforce struggles to meet current service demands, with long waits for appointments, increased complexity, and high volumes of nonreimbursed care. Sex-based practice differences must be considered in future planning. The viability of the DBP subspecialty requires strategies to maintain and expand the workforce, improve clinical efficiency, and prevent burnout.

To examine motor function in children with 22q11.2 deletion syndrome (22q11.2) and a Full Scale IQ (FSIQ) comparable control group.This study was part of a prospective study of neuropsychological function in children 9 to 15 years of age with 22q11.2 and community control subjects and included children from these two populations with comparable FSIQs.Verbal IQs on the WISC-R for 40 children with 22q11.2 (88.4) and 24 community control subjects (87.2) were not different (P=.563). However, the performance IQs were (22q11.2; 81.1 vs community controls; 89.3; P.001). On the Visual Motor Inventory, there was no difference between the standard scores of the two groups (22q11.2; 93.0 vs community control subjects; 98.1; P=.336) but on the motor coordination part of the Visual Motor Inventory, the scores of the 22q11.2 deletion syndrome group were lower (77.2 vs 89.3; P=.002). On the general neurologic examination (P=.906), the tone examination (P=.705), and the ball skills part of the Motor Battery, (P=.378), there were no differences. However, on the axial stability part of the Motor Battery, the children with 22q11.2 exhibited less good balance (P=.026).School-aged children with 22q11.2 have specific motor deficits in axial stability and graphomotor skills.

Objective To investigate the association between mesial temporal lobe morphology, ratios of prefrontal cortex to amygdala and hippocampus volumes, and psychiatric symptomatology in children and adolescents with velocardiofacial syndrome (VCFS). Method Scores on behavioral rating scales and volumetric measures of the amygdala, hippocampus, and prefrontal cortex based on high-resolution magnetic resonance imaging were compared among 47 children with VCFS, 15 of their siblings, and 18 community controls. Results After covarying for whole brain volume, children with VCFS exhibited 11% greater volume of the left amygdala ( p =.002) and 8% greater volume of the right amygdala ( p =.01). Children with VCFS exhibited smaller volumes of the hippocampus, but not disproportionately to reductions in whole brain volume. Children with VCFS exhibited smaller volumetric ratios of prefrontal and orbitofrontal cortex to amygdala, but not prefrontal cortex to hippocampus. For children with VCFS, but not for the comparison sample, larger volumes of the amygdala and smaller ratios of prefrontal cortex to amygdala were associated with higher scores on the Internalizing, Externalizing, Anxiety, and Aggression scales of the Child Behavior Checklist and on the parent version of the Young Mania Rating Scale. Conclusions These findings suggest that the prefrontal cortex-amygdala circuit that underlies emotional processing is disrupted in children with VCFS and may be an important neurobiological substrate of psychiatric disorder in these children. J. Am. Acad. Child Adolesc. Psychiatry , 2006;45(5):000-000.

Sex differences in cognitive functioning were investigated in children with velocardiofacial syndrome (VCFS), a genetic defect caused by a microdeletion on chromosome 22q.11. The study population consisted of six groups: 50 boys with VCFS (M = 11.1, SD = 2.7), 40 girls with VCFS (M = 10.8, SD = 2.5), 13 male siblings of the participant with VCFS (M = 12.3, SD = 1.9), 17 female siblings of the participant with VCFS (M = 12.2, SD = 1.9), and a race- and gender-ratio-matched sample of 28 boy community control participants (M = 10.7, SD =2.4) and 19 girl community control participants (M = 9.2, SD =2.3). Each participant received a psychological assessment including intellectual and academic achievement as well as structural magnetic resonance imaging of his or her brain. Our results indicate that boys with VCFS may be more cognitively affected than girls. In addition, and although cross-sectional in nature, our results document a negative association between age and cognitive functioning in girls with VCFS but not in boys. Sex differences in frontal lobe volume are generally seen in the general population between boys and girls (boys > girls) and across all three samples, this trend emerged. Relative to boys with VCFS, girls with VCFS may be less cognitively affected, although age is negatively associated with cognitive functioning in girls with VCFS but not boys, suggesting that girls with VCFS may fail to maintain this cognitive advantage over boys.

The American Academy of Pediatrics (AAP) has published clinical practice guidelines for the diagnosis of Attention Deficit Hyperactivity Disorder (ADHD). However, implementation of guidelines has been notoriously difficult to achieve in the wider context of changing individual physicians' clinical practice.Implement a formalized diagnostic protocol for ADHD and study whether this protocol improved adherence of pediatric residents and faculty to published guidelines for the diagnosis of ADHD.Quasi-experimental retrospective record review of 63 pediatric patients evaluated for ADHD by pediatric residents and faculty in an outpatient pediatric clinic before (n = 25) and after (n = 38) implementation of a formal diagnostic process for ADHD. The key elements of the new diagnostic process include completion of a semistructured interview and mandatory rating scales for home and school. The published AAP guidelines include 1) documentation of Diagnostic and Statistical Manual for Mental Disorders (DSM) IV criteria; 2) evidence of core symptoms obtained directly from home and 3) from school; and 4) assessment for coexisting conditions. Adherence was assessed to each criterion individually (yes/no) and was summarized in a single score.Only 4% of clinicians and nurse practitioners diagnosing children in the before group adhered to all 4 AAP guidelines, compared to 82% in the after group (P.001). Significant improvement was observed across each of the 4 criteria in the AAP guidelines. Moreover, the improvement in adherence to all 4 guidelines was noted for residents and faculty.A significant improvement in adherence to AAP guidelines was obtained for all providers through implementation of a structured diagnostic approach to ADHD.

This paper presents a conceptual review of the genetic underpinnings of 22q11.2 Deletion Syndrome. The neuroanatomical, neuropsychological, behavioral, and psychiatric phenotype associated with 22q11.2 Deletion Syndrome is also explored, including variables that are thought to affect symptom expression. The history of the deletion syndrome is described, and future directions for continued research are discussed.

In their role as committed advocates, parents of children with Down syndrome have always sought alternative therapies, mainly to enhance cognitive function but also to improve their appearance. Nutritional supplements have been the most frequent type of complementary and alternative therapy used. Cell therapy, plastic surgery, hormonal therapy, and a host of other therapies such as massage therapy have been used. There is a lack of well-designed scientific studies on the use of alternative therapies in individuals with Down syndrome. Antioxidants hold theoretical promise for treatment of the cognitive, immune, malignancy, and premature aging problems associated with Down syndrome. Medications for treatment of Alzheimer's disease may also result in benefit for the population of individuals with Down syndrome.

Objective To determine the prevalence of hearing loss in newborns with Down syndrome. Study design We performed a cross-sectional, retrospective chart review of all infants with Down syndrome born at a university-affiliated hospital (n = 77) or transferred in to the associated pediatric hospital (n = 32) following birth at an outlying hospital between 1995 and 2010. We determined the rate of failure of newborn hearing screens, the proportion of infants lost to follow-up, and the rate of confirmed hearing loss, as well as the associations of risk factors for hearing loss with confirmed hearing loss. Results Of the 109 patients with hearing screening data, 28 failed their newborn hearing screen. Twenty-seven infants were referred for audiologic evaluation, and 19 completed the evaluation. Fifteen of these 19 infants (79%) had confirmed hearing loss. The prevalence of congenital hearing loss in this sample of neonates with Down syndrome was 15%. Exposure to mechanical ventilation was the sole known risk factor associated with hearing loss. In this study, the loss to follow-up rate for infants with positive hearing screens was 32%. Conclusion Newborns with Down syndrome have a higher prevalence of congenital hearing loss compared with the total neonatal population (15% vs 0.25%). Continued monitoring of hearing is needed in children with Down syndrome.

Objective To determine the frequency of medical problems in a large population of children with Down syndrome. Study design Study population included 440 children with Down syndrome (ages 3-14 years) identified primarily through the New York Congenital Malformations Registry. Parents completed questionnaires on medical problems. Results Our study population was predominately White (92.3%), non-Hispanic (72.3%) with at least 1 college educated parent (72.3%). The prevalence of medical problems was as follows: heart disease (55%), hearing problem (39%), vision problem (39%), thyroid disease (27%), celiac disease (5%), alopecia (5%), seizures (7%), asthma/reactive airway disease (32%), diabetes (1%), and juvenile rheumatoid arthritis (0.2%). Of the children with heart disease, 58% needed surgery at a mean age of 9 months. Of the children with hearing loss, 29% were identified on newborn screening and 13% used an amplification device. Of the children with thyroid disease, 31% were diagnosed in the newborn period. Only 7% of these children with Down syndrome had no medical problem listed. Conclusion Prevalence data of medical illnesses in a large population of children with Down syndrome provide us with data to support implementation of the American Academy of Pediatrics guidelines for health supervision for children with Down syndrome. The long-term health implications of the conditions we surveyed will be important for decreasing morbidity and increasing overall health and wellness into adulthood.

Ninety-two children with velocardiofacial syndrome (VCFS), a genetic disorder caused by a microdeletion of chromosome 22q11.2 and an age, race, and gender-ratio comparable sample of 59 control participants were included in the project. Participants received an MRI as well as a comprehensive neuropsychological battery; the primary outcome measure in the current report is the Rey-Osterrieth Complex Figure (ROCF). Children with VCFS performed less well on the ROCF and have lower whole brain volume compared to controls. After controlling for whole brain volume differences, children with VCFS have bilaterally less parietal lobe gray and white matter yet more frontal lobe white matter. Brain-behavior relationships include: (a) for both groups, parietal volumes (both gray and white matter) predicted ROCF Copy Organization performance and frontal volumes (both gray and white matter) predicted ROCF Copy Accuracy performance; (b) for controls, frontal white matter also predicted ROCF Copy Organization performance; (c) ROCF Recall Organization performance was best predicted by frontal gray matter volume only in our controls; ROCF Recall Accuracy performance was best predicted by frontal gray matter volume in both groups; and (d) in children with VCFS, performance on the ROCF-Copy Structural Elements Accuracy scale was predicted by right hemisphere white matter volume. Our hypotheses were also retested using IQ-matched and whole brain volume-matched subsamples. Identical results were obtained in these analyses. Assumptions about the organization of and the localization of the brain structures that subserve specific cognitive functions in the typically developing brain may not apply in the abnormally developing brain.

Background Velocardiofacial syndrome (VCFS) is a microdeletion syndrome caused by a 22q11.2 chromosomal deletion. Methods In this study, parents reported on their own temperament as well as the temperament of their child. Sixty-seven children with VCFS (mean age = 10.8, SD = 2.8; range 6–15), and age-, race- and gender-ratio matched samples of 47 community control participants (mean age = 10.4, SD = 2.6; range 6–15), and 18 sibling control participants (mean age = 12.1, SD = 1.9; range 9–15) took part in the current project. Results Children with VCFS have a temperament that may best be described as modestly difficult; while participants with VCFS were not more difficult across all temperamental domains, children with VCFS were rated by their parents as being: (1) less regular in their daily habits (e.g. eating at the same time each day, etc.); (2) less able to focus/sustain attention; (3) less cheerful/pleasant; (4) less likely to stay with an activity for a long time; and (5) less able to respond flexibly to changes in the environment. Conclusions The best predictors of parent report of behavioural symptoms in children with VCFS were poor concordance between parent and child temperament across general activity level and mood domains.

Objective To examine prevalence rates of psychopathology in children with velocardiofacial syndrome (VCFS). Method One hundred fifty-four children ages 6 to 15 participated in our between-group design with three samples, 84 children with VCFS (37 girls, 47 boys), 32 sibling controls (18 girls, 14 boys), and 38 community controls (12 girls, 26 boys). The Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime version and several other parent report measures were used to assess for psychopathology. Results Compared to both control samples, children with VCFS had higher prevalence rates of major depressive disorder, attention-deficit/hyperactivity disorder, simple phobias, and enuresis. Additional findings from our analyses include (1) no gender differences in VCFS psychopathology prevalence rates, (2) children with VCFS who have comorbid psychopathology were rated by their parents as having less well-developed executive functions, and (3) across all three samples, the higher the IQ was, the higher the level of global functioning. Conclusions These findings are consistent with previous research and suggest that major depressive disorder, attention-deficit/hyperactivity disorder, and simple phobias are salient features of the VCFS psychiatric phenotype.

Velo-cardio-facial syndrome has emerged from obscurity to become one of the most researched disorders this past decade. It is one of the most common genetic syndromes in humans, the most common contiguous gene syndrome in humans, the most common syndrome of cleft palate, and the most common syndrome of conotruncal heart malformations. Velo-cardio-facial syndrome has an expansive phenotype, a factor reflected in the wide range of studies that cover both clinical features and molecular genetics. In this review, we cover multiple areas of research during the past year, including psychiatric disorders, neuroimaging, and the delineation of clinical features.The identification of candidate genes for heart anomalies, mental illness, and other clinical phenotypes has been reported in the past year with a focus on TBX1 for cardiac and craniofacial phenotypes and COMT and PRODH for psychiatric disorders. The expansive phenotype of velo-cardio-facial syndrome continues to grow with new behavioral and structural anomalies reported. Treatment issues are beginning to draw attention, although most authors continue to focus on diagnostic issues.Its high population prevalence, estimated to be as common as 1:2000 has sparked a large amount of research, as has the model the syndrome serves for identifying the causes of mental illness and learning disabilities, but it is obvious that more information is needed. Intensive scrutiny of velo-cardio-facial syndrome will undoubtedly continue for many years to come with the hope that researchers will turn more of their attention to treatment and treatment outcomes.

We compared the hematologic parameters of 18 otherwise healthy children with Down syndrome (DS) in the age range of 2-6 years to those of 18 healthy non-DS controls matched for age and gender. The children with DS had MCVs and hematocrits increased significantly compared to controls and decreased WBCs compared to controls; 66% of the children with DS compared to 11% of non-DS controls had MCVs greater than the 97th percentile for age (P < 0.0001); the mean MCVs were 86.9 and 80.6, respectively. Although hematocrits were within normal limits for age for all DS and non-DS subjects, the DS patients had significantly higher hematocrits (39.1% vs. 36.9%, P < 0.014). We also found that 33% of the children had WBCs < 5% for age compared to 6% of controls. To determine whether folate deficiency contributed to these observations, we measured serum and RBC folate concentrations: these were not significantly different between the 2 groups. We conclude that macrocytosis and leukopenia are common in children with DS.

The aim of this study was to measure nutrient intake and body composition in prepubescent children with Down syndrome to understand dietary barriers involved in the prevention and treatment of obesity.Dietary intake was determined from parent-reported 3-day diet records for children with Down syndrome and control subjects. Energy intake was compared with energy expenditure measured by the doubly labeled water method. Body composition was determined by deuterium dilution, bioelectrical impedance analysis, and skinfold thickness measurements.Ten prepubescent children with Down syndrome and 10 control subjects were recruited from the hospital community. The study was conducted in the Clinical Research Center of the University of Chicago Medical Center.Nutrient intakes were compared with the Recommended Dietary Allowances (RDAs) to estimate risk for nutrient deficiency. Fat-free mass values determined by bioelectrical impedance analysis and measurement of skinfold thicknesses were compared with values determined using the deuterium dilution method.Unpaired t tests were used for comparisons between subjects groups and the Wilcoxon signed-rank test was used for comparison of nutrient intakes with RDAs.The subjects with Down syndrome were significantly shorter (P.01) than control subjects; however, body composition did not differ between the groups. Reported energy intake was lower in subjects with Down syndrome. In addition, several micronutrients were consumed, especially among nonobese subjects with Down syndrome, at less than 80% of the RDA.To avoid lowering already inadequate intakes of several vitamins and minerals, we suggest that treatment of obesity in children with Down syndrome combine a balanced diet without energy restriction, vitamin and mineral supplementation, and increased physical activity.