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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.

To determine whether functional self-care skills and presence of behavior problems in youth with developmental disabilities are associated with parents planning for the youth’s transition to adulthood. This multi-site study consisted of 167 parents of youth aged 10–22 years with autism spectrum disorder, ADHD and/or other developmental disabilities who completed a questionnaire on transition to adulthood. Parent-rated child self-care status was measured using a six-item scale that had excellent reliability (Cronbach’s alpha=0.90). Multivariable logistic regression models revealed that parents were less likely to plan for the youth’s transition to adulthood if their child needed more assistance with functional self-care skills (OR 0.78, 95% CI 0.63–0.96, p=.021). Despite this unexpected finding, greater child need for assistance with self-care was associated with lower parental expectations that their children would live independently by age 22 (OR 0.40, 95%CI 0.24–0.66, p

Down syndrome is a chromosomal disorder with considerable neurodevelopmental impact and neurodegenerative morbidity. In a pilot trial in young adults with Down syndrome, memantine (a drug approved for Alzheimer's disease) showed a significant effect on a secondary measure of episodic memory. We aimed to test whether memantine would improve episodic memory in adolescents and young adults with Down syndrome.We did a randomised, double-blind, placebo-controlled phase 2 trial with a parallel design, stratified by age and sex. Participants (aged 15-32 years) with either trisomy 21 or complete unbalanced translocation of chromosome 21 and in general good health were recruited from the community at one site in Brazil and another in the USA. Participants were randomly assigned (1:1) to receive either memantine (20 mg/day orally) or placebo for 16 weeks. Computer-generated randomisation tables for both sites (allocating a placebo or drug label to each member of a unique pair of participants) were centrally produced by an independent statistician and were shared only with investigational pharmacists at participating sites until unblinding of the study. Participants and investigators were masked to treatment assignments. Neuropsychological assessments were done at baseline (T1) and week 16 (T2). The primary outcome measure was change from baseline to week 16 in the California Verbal Learning Test-second edition short-form (CVLT-II-sf) total free recall score, assessed in the per-protocol population (ie, participants who completed 16 weeks of treatment and had neuropsychological assessments at T1 and T2). Linear mixed effect models were fit to data from the per-protocol population. Safety and tolerability were monitored and analysed in all participants who started treatment. Steady-state concentrations in plasma of memantine were measured at the end of the trial. This study is registered at ClinicalTrials.gov, number NCT02304302.From May 13, 2015, to July 22, 2020, 185 participants with Down syndrome were assessed for eligibility and 160 (86%) were randomly assigned either memantine (n=81) or placebo (n=79). All participants received their allocated treatment. Linear mixed effect models were fit to data from 149 (81%) participants, 73 in the memantine group and 76 in the placebo group, after 11 people (eight in the memantine group and three in the placebo group) discontinued due to COVID-19 restrictions, illness of their caregiver, adverse events, or low compliance. The primary outcome measure did not differ between groups (CVLT-II-sf total free recall score, change from baseline 0·34 points [95% CI -0·98 to 1·67], p=0·61). Memantine was well tolerated, with infrequent mild-to-moderate adverse events, the most common being viral upper respiratory infection (nine [11%] participants in the memantine group and 12 [15%] in the placebo group) and transient dizziness (eight [10%] in the memantine group and six [8%] in the placebo group). No serious adverse events were observed. Amounts of memantine in plasma were substantially lower than those considered therapeutic for Alzheimer's disease.Memantine was well tolerated, but cognition-enhancing effects were not recorded with a 20 mg/day dose in adolescents and young adults with Down syndrome. Exploratory analyses point to a need for future work.Alana Foundation.For the Portuguese translation of the abstract see Supplementary Materials section.

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 obtain and review workforce data, given the critical demand for developmental pediatricians (DPs).Survey of demographics and professional activities of DP physician faculty at Developmental-Behavioral Pediatric (DBP) Research Network fellowship training sites.Of the eligible providers at 12 centers, 76% (n = 50) completed surveys. They were on average 50 years old and mostly female (86%), white (82%), and working full time (74%). Full timers reported a mean 50.2-hour week made up of clinical work (23.2 hours), supervision (5.9 hours), research (8.8 hours), administration (5.2 hours), teaching (1.5 hours), advocacy (1.1 hours), and other (4.3 hours). Compared with those10 years out of training, the 20 physicians (40%) ≤10 years out of fellowship were more likely to be nonwhite (p = .003). Overall faculty interest/expertise (I/E) was highest in autism (90%) and attention deficit hyperactivity disorder (ADHD; 86%). Those ≤10 years out of fellowship had more I/E in autism (p = .05) and less in chronic illness (p = .06) and parenting (p = .06). DPs practiced most frequently in a General DBP Clinic (74%), followed by clinics specific for: Autism (36%), Toddlers (22%), ADHD (20%), Infants (18%) and Preschoolers (16%). Common clinics were Autism (9), syndrome specific (9), ADHD (6), and School-Aged (5).Developmental pediatrician faculty in DBP training sites feed the pipeline of much needed DP physicians. This survey provides baseline information on the professional activities of DP faculty and found changing demographics and I/E as well as a wide variety of clinic types.

We report three cases of asymptomatic celiac disease identified in children with Down syndrome after being screened at around twenty-four months of age. These cases raise the question as to what age is screening for celiac disease indicated in a child with Down syndrome and no symptoms.

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.

The majority of children with 22q11.2DS deletion syndrome (22q11.2DS) have learning disabilities, and a substantial number have mental retardation. Although cognitive data have been reported on several samples of children with 22q11.2DS, data on their early developmental milestones are limited.The present study used a retrospective design and asked parents to recall developmental milestones. The participants were 88 children with 22q11.2DS, 47 community controls, and 29 sibling controls.Although very early gross motor and expressive language milestones did not differ significantly from comparison groups, subsequent gross motor and expressive language milestones did, suggesting that children with 22q11.2DS may begin to lag behind their peers sometime after the first year of life in these two domains. These patterns were also apparent when a subset of intellectually comparable children (22q11.2DS, n = 40 vs community controls, n = 24) was analyzed. We further found that receptive language and social adaptive milestones did not differ from comparison samples in either the early or later period. Receptive language delays were predictive of later Wechsler Intelligence Scale for Children-Third Edition Perceptual Organization Index scores, particularly in girls with 22q11.2DS.This suggests that although receptive language may be an area of relative strength in the developmental profile of young children with 22q11.2DS, even mild receptive delays should not be overlooked in early interventions with children with this disorder.

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.

Objective The purpose of this study was to determine whether demographic characteristics, history of exposure to recognized transmission vehicles, or illness that was compatible with acute toxoplasmosis during gestation identified most mothers of infants with congenital toxoplasmosis. Study design Mothers of 131 infants and children who were referred to a national study of treatment for congenital toxoplasmosis were characterized demographically and questioned concerning exposure to recognized risk factors or illness. Results No broad demographic features identified populations that were at risk. Only 48% of mothers recognized epidemiologic risk factors (direct or indirect exposure to raw/undercooked meat or to cat excrement) or gestational illnesses that were compatible with acute acquired toxoplasmosis during pregnancy. Conclusion Maternal risk factors or compatible illnesses were recognized in retrospect by fewer than one half of North American mothers of infants with toxoplasmosis. Educational programs might have prevented acquisition of Toxoplasma gondii by those mothers who had clear exposure risks. However, only systematic serologic screening of all pregnant women at prenatal visits or of all newborn infants at birth would prevent or detect a higher proportion of these congenital infections.

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.

The sequencing of chromosome 21 and the use of models of Down's syndrome in mice have allowed us to relate genes and sets of genes to the neuropathogenesis of this syndrome, and to better understand its phenotype. Research in prenatal screening and diagnosis aims to find methods to identify fetuses with Down's syndrome, and reduce or eliminate the need for amniocentesis. Other areas of active research and clinical interest include the association of Down's syndrome with coeliac disease and Alzheimer's disease, and improved median age of death. Medical management of the syndrome requires an organised approach of assessment, monitoring, prevention, and vigilance. Improvements in quality of life of individuals with Down's syndrome have resulted from improvements in medical care, identification and treatment of psychiatric disorders (such as depression, disruptive behaviour disorders, and autism), and early educational interventions with support in typical educational settings. Approaches and outcomes differ throughout the world.

Nongenetic as well as genetic etiologies must be explored in the child with identified hearing loss. Graduates of the neonatal intensive care unit are at increased risk for developing hearing loss due to hypoxia, hyperbilirubinemia, very low birth weight, and ototoxic medications. Although meningitis has decreased in frequency, it is still a risk factor for hearing loss. Cytomegalovirus remains the most common congenital infection and a relatively common etiology of hearing loss, which can be progressive. Preventable causes of hearing loss include those caused by head trauma, noise, and ototoxic medications. Identification of the etiology of hearing loss can facilitate the development of a treatment and management plan.

Infants and young children with Down syndrome are frequently among the youngest children enrolled in early intervention programs, providing interventionists with experience with this population of children. Infants and children with Down syndrome have an increased incidence of a variety of medical p

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.

Children with Down syndrome (DS) have a high prevalence of obesity. To investigate the relation between energy expenditure and obesity, we measured body composition, resting metabolic rate (RMR), and total energy expenditure in 13 prepubescent children with DS and in 10 control subjects matched for age, weight, and percentage of fat, using indirect calorimetry and the doubly labeled water method. Measurement of RMR was complicated by excessive movement by both the DS and control subjects. We therefore developed a method of subtracting the energy expended in movement and calculated the corrected RMR. The corrected RMR was significantly lower in those with DS than in control subjects when expressed as a percentage of the basal metabolic rate, predicted by the World Health Organization: 79.5% +/- 10.4% and 96.8% +/- 7.8%, respectively (p < 0.001). No significant differences were detected in total daily energy expenditure or non-RMR expenditure between the subject groups. In the DS group, 60% of the variability in fat mass could be accounted for by non-RMR expenditure expressed per kilogram of body weight (p < 0.02). No relation was detected between fat mass and non-RMR expenditure in control subjects, nor were any measures of energy expenditure predictive of changes in fatness among the subjects with DS during a 1-year follow-up. The results of this study indicate that prepubescent children with DS have decreased RMR compared with control children.

Conventional behavioral testing of hearing shows that children with Down syndrome have a high prevalence of hearing deficits. However, most young (3.5 years of age) children with Down syndrome are unable to cooperate in this type of testing. We evaluated auditory brain-stem responses of 47 unselected patients 2 months to 3 1/2 years of age. Thirty-four percent had normal hearing, 28% had unilateral loss, and 38% had bilateral loss. Type of loss was conductive in 19 ears, mixed in 14, and sensorineural in 16. Degree of loss was mild in 33 ears, moderate in 13, and severe to profound in 3. Language quotients and degree of hearing loss were compared and an association was not found. Because of the high prevalence of hearing loss in children with Down syndrome, we recommend evaluation of auditory brain-stem responses in the first 6 months of life.

With increasingly effective medical interventions for congenital heart disease and leukemia, more individuals with Down syndrome (DS) are living into adulthood and old age. To enable children and adults with DS to be healthy and able to function well and live life fully, we need to be knowledgeable about the plethora of medical problems that are possible. In individuals with DS, each system has the potential of some or several types of medical problems that may require constant surveillance such as celiac disease or monitoring such as thyroid disease. These disorders may be more prevalent at different ages, such as arthropathy of DS, or constantly a potential issue, such as atlantoaxial subluxation. This chapter describes by system the multitude of potential medical problems that individuals with DS have an increased chance of developing at different ages.

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.

The Risks of Extending the Controversial Use of Tocolytic Magnesium Sulfate for the Purpose of Neuroprotection in Preterm Labor

As the child with Down syndrome enters the second decade of life, some of the original medical issues, such as cardiac, vision, and hearing problems, continue to concern parents. Dermatologic and podiatric problems may become particularly bothersome. Although the child may be doing well, monitoring for thyroid and celiac disease continues to be needed. Continued vigilance is needed for arthritis, diabetes, leukemia, neck subluxation, and seizures. Prevention and treatment of dental and obesity problems are important. Psychiatric and behavioral problems may compromise the adolescent's opportunities. Sexuality and the associated issues of abuse, pregnancy, and menstrual hygiene must be addressed.

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.

• Exploration of the history, terminology, and classification of cerebral palsy reveals it as a complex entity. Criteria exist that may make early diagnosis and appropriate intervention possible. Dealing with patients who have cerebral palsy requires recognition of the associated problems and deficits. Comprehensive management usually requires a multidisciplinary setting, which is used to outline the contributions of many therapeutic modalities—developmental pediatrics, occupational and physical therapy, hearing and speech, psychology, social services, special education, opthalmology, neurology, orthopedics, and neurosurgery. The poor prognosis for full function within the community is recognized, as are areas of research that require investigation. ( Am J Dis Child 130:643-649, 1976)