Down Syndrome Group Research Articles

Cardiorespiratory Coordination During Exercise in Adults With Down Syndrome.

Introduction: Down syndrome (DS) is a chromosomal disorder affecting simultaneously cardiovascular and respiratory systems. There is no research studying the coupling between these systems during cardiorespiratory exercise testing in a population with DS. Cardiorespiratory coordination (CRC), evaluated through principal component analysis (PCA), measures the covariation of cardiorespiratory variables during exercise.Objective: To investigate and compare CRC in adults with and without DS during maximal cardiorespiratory exercise testing.Methods: Fifteen adults with DS and 15 adults without disabilities performed a maximal cardiorespiratory exercise test on a treadmill. First, the slope, and afterward the velocity was increased regularly until participants reached exhaustion. The time series of six selected cardiorespiratory variables [ventilation per minute, an expired fraction of O2, the expired fraction of CO2, heart rate, systolic blood pressure (SBP), and diastolic blood pressure (DBP)] were extracted for the analysis. The number of principal components (PCs), the first PC eigenvalues (PC1), and the information entropy were computed for each group (non-DS and DS) and compared using a t-test or a Mann-Whitney U test.Results: Two PCs in the non-DS group and three PCs in the DS group captured the variance of the studied cardiorespiratory variables. The formation of an additional PC in the DS group was the result of the shift of SBP and DBP from the PC1 cluster of variables. Eigenvalues of PC1 were higher in the non-DS (U = 30; p = 0.02; d = 1.47) than in the DS group, and the entropy measure was higher in the DS compared with the non-DS group (U = 37.5; p = 0.008; d = 0.70).Conclusion: Adults with Down syndrome showed higher CRC dimensionality and a higher entropy measure than participants without disabilities. Both findings point toward a lower efficiency of the cardiorespiratory function during exercise in participants with DS. CRC appears as an alternative measure to investigate the cardiorespiratory function and its response to exercise in the DS population.

Eating and Lifestyle Habits in Youth With Down Syndrome Attending a Care Program: An Exploratory Lesson for Future Improvements.

Introduction: Children with Down Syndrome (DS) have nutritional problems with unknown implications besides increased potential for obesity. Their food habits are unknown. We aim to delineate eating and lifestyle habits of DS children attending a multispecialist program to identify the challenges they face and the potential improvements.Patients and Methods: We interacted with 34 DS children (22 males, 12 females, 2–16 years old) and their families. Food habits, medical conditions and treatments, degrees of development and physical activity, anthropometric and laboratory data were recorded over 6 months and analyzed. A 3-day food diary and a 24-h recall food frequency questionnaire were administered.Results: Twenty-nine (85%) children completed meals, only 11 (32%) received alternative food such as milk. Weaning regularly started in 25 (73%) children. Preschool children introduced adequate calories and nutrients. School children and adolescents did not reach recommendations. All age groups, as the general pediatric population, excessively ate protein and saturated fat, and preferred bread, pasta, fruit juices, meat and cold cuts. Peculiarly, pulses and fish were adequately assumed by preschool and school children, respectively. Five children (15%) were overweight/obese.Conclusions: Dietary excesses commonly found in the general pediatric population are also present in this DS group, proving a narrowing gap between the two. DS group performed better nutritionally in the early years and overweight/obesity occurrence seems contained. DS children may benefit from a practical yet professional care-program in which nutrition education may improve their growth, development and transition into adulthood.

Dosing of Opioid Medications During and After Pediatric Cardiac Surgery for Children With Down Syndrome

To determine whether children with Down syndrome (DS) receive higher doses of opioid medications compared with children without DS for repair of complete atrioventricular canal (CAVC). A retrospective chart review of children with and without DS who underwent primary repair of CAVC. The exclusion criteria included unbalanced CAVC and patients undergoing biventricular staging procedures. The primary outcome was oral morphine equivalents (OME) received in the first 24 hours after surgery. The secondary outcomes included intraoperative OME, OME at 48 and 72 hours, nonopioid analgesic and sedative medications received, pain scores, time to extubation, and length of stay. A pediatric academic medical center in the United States. One hundred thirty-one patients with DS and 24 without, all <two years old, who underwent a CAVC repair. Not applicable. Patients with DS were older than patients without DS (median 96.3 days [interquartile range {IQR} 70.7-128.2] v 75.9 days [IQR 49.8-107.3], p=0.033) but otherwise not statistically different in the baseline characteristics. There was no difference in OME received in the first 24 hours postoperatively between groups (3.01 mg/kg [IQR 1.23-5.43] v 3.57 mg/kg [IQR 1.54-7.06], p=0.202). OME at 48 and 72 hours was lower in the DS group compared with the control group. Similar amounts of opioid and non-opioid analgesics and sedatives were otherwise given to both groups of patients. Median pain scores did not differ between groups. These results suggested that patients with DS undergoing CAVC repair do not have increased opioid requirements compared with a similar control group.

Postmortem Neocortical 3H-PiB Binding and Levels of Unmodified and Pyroglutamate Aβ in Down Syndrome and Sporadic Alzheimer's Disease.

Individuals with Down syndrome (DS) have a genetic predisposition for amyloid-β (Aβ) overproduction and earlier onset of Aβ deposits compared to patients with sporadic late-onset Alzheimer’s disease (AD). Positron emission tomography (PET) with Pittsburgh Compound-B (PiB) detects fibrillar Aβ pathology in living people with DS and AD, but its relationship with heterogeneous Aβ forms aggregated within amyloid deposits is not well understood. We performed quantitative in vitro 3H-PiB binding assays and enzyme-linked immunosorbent assays of fibrillar (insoluble) unmodified Aβ40 and Aβ42 forms and N-terminus truncated and pyroglutamate-modified AβNpE3-40 and AβNpE3-42 forms in postmortem frontal cortex and precuneus samples from 18 DS cases aged 43–63 years and 17 late-onset AD cases aged 62–99 years. Both diagnostic groups had frequent neocortical neuritic plaques, while the DS group had more severe vascular amyloid pathology (cerebral amyloid angiopathy, CAA). Compared to the AD group, the DS group had higher levels of Aβ40 and AβNpE3-40, while the two groups did not differ by Aβ42 and AβNpE3-42 levels. This resulted in lower ratios of Aβ42/Aβ40 and AβNpE3-42/AβNpE3-40 in the DS group compared to the AD group. Correlations of Aβ42/Aβ40 and AβNpE3-42/AβNpE3-40 ratios with CAA severity were strong in DS cases and weak in AD cases. Pyroglutamate-modified Aβ levels were lower than unmodified Aβ levels in both diagnostic groups, but within group proportions of both pyroglutamate-modified Aβ forms relative to both unmodified Aβ forms were lower in the DS group but not in the AD group. The two diagnostic groups did not differ by 3H-PiB binding levels. These results demonstrate that compared to late-onset AD cases, adult DS individuals with similar severity of neocortical neuritic plaques and greater CAA pathology have a preponderance of both pyroglutamate-modified AβNpE3-40 and unmodified Aβ40 forms. Despite the distinct molecular profile of Aβ forms and greater vascular amyloidosis in DS cases, cortical 3H-PiB binding does not distinguish between diagnostic groups that are at an advanced level of amyloid plaque pathology. This underscores the need for the development of CAA-selective PET radiopharmaceuticals to detect and track the progression of cerebral vascular amyloid deposits in relation to Aβ plaques in individuals with DS.

Epidemiology of Acute Leukemia among Children with Down Syndrome in Korea.

PurposeChildren with Down syndrome (DS) show a higher risk of acute leukemia than those without DS. In this study, we investigated the nationwide incidence of acute leukemia among children with DS and compared their epidemiologic characteristics with those of children with acute leukemia but without DS.Materials and MethodsUsing the National Health Insurance Service database, we selected patients with acute leukemia aged 0–19 years at diagnosis between 2007 and 2016.ResultsAmong the 4,697 children with acute leukemia, 54 (1.1%) had DS. The median incidence rate of leukemia with DS by year was 1.3% (range, 0.2% to 2.0%). Sixteen patients with acute lymphoblastic leukemia (ALL; 29.6%) and 36 with acute myeloid leukemia (AML; 66.7%) had DS. The DS group showed younger age at diagnosis than the non-DS group, and diagnosis of AML was more frequent in the DS group than in the non-DS group (3 years vs. 9 years, p < 0.001; 66.7% vs. 32.4%, p < 0.001, respectively). The 5-year overall survival was comparable between the DS and non-DS groups (88.0% vs. 81.9%, p=0.375). Among all the Koreans born between 2007 and 2008, the incidences of acute leukemia, ALL, and AML were 49.25, 20.75, and 163.38 times higher, respectively, in the DS group than in the non-DS group.ConclusionOur findings support the fact that the incidence of acute leukemia is higher among patients with DS than among those without DS in Korea. However, the DS and non-DS groups in this study had a comparable overall survival rate.

Refractive and Vision Status in Down Syndrome: A Comparative Study

Objectives:To determine the prevalence of refractive errors and visual impairment in Down syndrome (DS) patients compared to normal controls.Materials and Methods:Cycloplegic refraction was tested in 213 DS patients and 184 normal age- and gender-matched controls using autorefraction followed by retinoscopy. Data from the worse eye of each case were used in the analyses.Results:In the DS and control groups, respectively, mean age was 17.2±4.8 and 17.2±4.4 years (p=0.993) and 53.0% and 49.5% were male (p=0.473). In the DS and control groups, respectively, mean spherical equivalent (SE) was -5.13±4.47 and -4.15±3.04 diopters (D) in myopics (p=0.050) and 2.47±1.64 and 2.36±2.04 D in hyperopics (p=0.482), mean cylinder error was -2.17±1.39 and -2.05±1.57 D (p=0.451), mean J0 was -0.03±0.89 and 0.12±0.76 D (p=0.086), and mean J45 was 0.11±1.02 and -0.13±1.03 D (p=0.024). The prevalence of oblique astigmatism was higher in the DS group (20.4% vs. 6.1%) while against-the-rule astigmatism was more prevalent in the control group (84.0% vs. 71.6%) (p<0.001). The prevalence of anisometropia was not significantly different between the groups (19.4% vs. 13.8%). Visual impairment was detected in 11.7% of the DS and 0.5% of the control group (p<0.001). The prevalence of amblyopia was 36.3% and 3.8% in the DS and control groups, respectively (p<0.001). Based on the multiple model, only absolute SE inversely correlated with age and differed between males and females (all p<0.05).Conclusion:In DS patients, the prevalence rates of refractive errors, amblyopia, and visual impairment are higher than those in non-DS individuals, and emmetropization appears to be either defective or slow. Cylinder error is stable in this age range, but the rotation of astigmatism axis is different from normal samples.

Facial recognition accuracy in photographs of Thai neonates with Down syndrome among physicians and the Face2Gene application.

Down syndrome (DS) is typically recognizable in those who present with multiple dysmorphism, especially in regard to facial phenotypes. However, as the presentation of DS in neonates is less obvious, a phenotype-based presumptive diagnosis is more challenging. Recently, an artificial intelligence (AI) application, Face2Gene, was developed to help physicians recognize specific genetic syndromes by using two-dimensional facial photos. As of yet, there has not been any study comparing accuracy among physicians or applications. Our objective was to compare the facial recognition accuracy of DS in Thai neonates, using facial photographs, among physicians and the Face2Gene. Sixty-four Thai neonates at Thammasat University Hospital, with genetic testing and signed parental consent, were divided into a DS group (25) and non-DS group (39). Non-DS was further divided into unaffected (19) and those affected with other syndromes (20). Our results revealed physician accuracy (89%) was higher than the Face2Gene (81%); however, the application was higher in sensitivity (100%) than physicians (86%). While this application can serve as a helpful assistant in facilitating any genetic syndrome such as DS, to aid clinicians in recognizing DS facial features in neonates, it is not a replacement for well-trained doctors.

Challenges in the Surgical Treatment of Atrioventricular Septal Defect in Children With and Without Down Syndrome in Romania-A Developing Country.

Background: Atrioventricular septal defect (AVSD) is a cardiac malformation that accounts for up to 5% of total congenital heart disease, occurring with high frequency in people with Down Syndrome (DS). We aimed to establish the surgical challenges and outcome of medical care in different types of AVSD in children with DS compared to those without DS (WDS).Methods: The study included 62 children (31 with DS) with AVSD, evaluated over a 5 year period.Results: Complete AVSD was observed in 49 (79%) children (27 with DS). Six children had partial AVSD (all WDS) and seven had intermediate types of AVSD (4 with DS). Eight children had unbalanced complete AVSD (1 DS). Median age at diagnosis and age at surgical intervention in complete AVSD was not significantly different in children with DS compared to those WDS (7.5 months vs. 8.6). Median age at surgical intervention for partial and transitional AVSDs was 10.5 months for DS and 17.8 months in those without DS. A large number of patients were not operated: 13/31 with DS and 8/31 WDS.Conclusion: The complete form of AVSD was more frequent in DS group, having worse prognosis, while unbalanced AVSD was observed predominantly in the group without DS. Children with DS required special attention due to increased risk of pulmonary hypertension. Late diagnosis was an important risk factor for poor prognosis, in the setting of suboptimal access to cardiac surgery for patients in Romania. Although post-surgery mortality was low, infant mortality before surgery remains high. Increased awareness is needed in order to provide early diagnosis of AVSD and enable optimal surgical treatment.

Sleep-disordered breathing and sleep macro- and micro-architecture in children with Down syndrome.

Children with Down syndrome (DS) are at increased risk of sleep-disordered breathing (SDB), which is associated with intermittent hypoxia and sleep disruption affecting daytime functioning. We aimed to compare the impact of SDB on sleep quality in children with DS compared to typically developing (TD) children with and without SDB. Children with DS and SDB (n = 44) were age- and sex-matched with TD children without SDB (TD-) and also for SDB severity with TD children with SDB (TD+). Children underwent overnight polysomnography with sleep macro- and micro-architecture assessed using electroencephalogram (EEG) spectral analysis, including slow-wave activity (SWA, an indicator of sleep propensity). Children with DS had greater hypoxic exposure, more respiratory events during REM sleep, higher total, delta, sigma, and beta EEG power in REM than TD+ children, despite the same overall frequency of obstructive events. Compared to TD- children, they also had more wake after sleep-onset and lower sigma power in N2 and N3. The DS group had reduced SWA, indicating reduced sleep drive, compared to both TD groups. Our findings suggest that SDB has a greater impact on sleep quality in children with DS compared to TD children. SDB in children with DS exacerbates disruption of sleep quality, compared to TD children. The prevalence of SDB is very high in children with DS; however, studies on the effects of SDB on sleep quality are limited in this population. Our findings suggest that SDB has a greater impact on sleep quality in children with DS compared to TD children, and should be screened for and treated as soon as possible.

Language profiles of Welsh-English bilingual children with Down syndrome

PurposeGiven that children with Down syndrome (DS) have language learning difficulties, concerns have been raised about the capacity of these children to acquire two (or more) languages. This research examines the language profiles of bilingual children with DS and typically developing (TD) children in comparison to monolinguals, with a view towards identifying the factors associated with language abilities within these populations. MethodFour groups of children were recruited: Welsh-English bilinguals with DS (n=10), English monolinguals with DS (n=10), TD Welsh-English bilinguals (n=10) and TD English monolinguals (n=10). Children were individually matched on nonverbal cognitive ability (NVCA) to each child in the bilingual DS group and the four groups were matched on socioeconomic status and gender. Bilinguals were matched on current and lifetime exposure to Welsh and age of first exposure to their L2. Within DS and TD groups, chronological age was statistically controlled for. Language abilities were assessed via standardised assessments and specially designed tasks. Bilinguals were assessed in both of their languages. ResultsResults show no effect of language status on measures of expressive and receptive language abilities or phonological awareness. Language impairments were evident for both DS groups, particularly for expressive morphosyntax. Welsh receptive vocabulary scores of the bilinguals with DS were comparable to the TD bilinguals. Working memory, phonological awareness and chronological age were the strongest predictors of receptive language outcomes in both DS groups, explaining 90% of the variability. ConclusionsIn conclusion, we report no adverse outcomes on language development for bilinguals with DS. To our knowledge, this is the first group study of bilingualism in children with DS within the UK. Findings align with and add to the growing body of literature that reports that bilingualism does not negatively impact the language development of children with developmental disabilities. Clinical and educational implications are discussed.

Hopping skill in individuals with Down syndrome: A qualitative and quantitative assessment.

Individuals with Down syndrome (DS) show a delayed acquisition of gross motor skills. Among gross motor skills, hopping is a particular form of jumping that can be performed using one leg. Despite its large use during play and physical activity, this skill in adults with DS has not received much attention so far. Here, we aim at investigating hopping skill in adults with DS both from a quantitative and qualitative point of view. Center of mass and dominant leg kinematics during hopping over distance were recorded from 24 adult individuals with DS and from 21 typically developed adults (TD) using two inertial measurement units positioned on the posterior aspect of the lower back and on the lateral malleolus of the hopping leg. From linear acceleration and angular velocity signals, hopping frequency (HF), cycle, stance and flight duration (CD, SD, FD), vertical stiffness (KV) and peak to peak linear acceleration and angular velocities about the cranio-caudal, antero-posterior and medio-lateral axes were extracted. A qualitative process assessment of the hopping skill was carried out using the performance criteria of the test for gross motor development (TGMD-3). The extracted parameters were submitted to analysis of covariance, with stature as a covariate to rule-out possible confounding effects. The qualitative assessment highlighted a poorer hopping performance in the DS group compared to the TD group. DS participants showed higher HF and KV, shorter CD, SD, FD and lower angular velocity about the cranio-caudal axis compared to the TD group. Significant correlations between the temporal parameters of the quantitative assessment and the results of the qualitative assessment were observed. The poorer motor competence in hopping in individuals with DS compared to TD peers may be related to the shorter flight time and higher vertical stiffness observed in TD peers. The adopted instrumental approach, overcoming the limitations of subjective evaluations, represents a promising opportunity to quantify motor competence in hopping.

Differential auditory brain response abnormalities in two intellectual disability conditions: SYNGAP1 mutations and Down syndrome

ObjectiveAltered sensory processing is common in intellectual disability (ID). Here, we study electroencephalographic responses to auditory stimulation in human subjects presenting a rare condition (mutations in SYNGAP1) which causes ID, epilepsy and autism. MethodsAuditory evoked potentials, time-frequency and inter-trial coherence analyses were used to compare subjects with SYNGAP1 mutations with Down syndrome (DS) and neurotypical (NT) participants (N = 61 ranging from three to 19 years of age). ResultsAltered synchronization in the brain responses to sound were found in both ID groups. The SYNGAP1 mutations group showed less phase-locking in early time windows and lower frequency bands compared to NT, and in later time windows compared to NT and DS. Time-frequency analysis showed more power in beta-gamma in the SYNGAP1 group compared to NT participants. ConclusionsThis study indicated reduced synchronization as well as more high frequencies power in SYNGAP1 mutations, while maintained synchronization was found in the DS group. These results might reflect dysfunctional sensory information processing caused by excitation/inhibition imbalance, or an imperfect compensatory mechanism in SYNGAP1 mutations individuals. SignificanceOur study is the first to reveal brain response abnormalities in auditory sensory processing in SYNGAP1 mutations individuals, that are distinct from DS, another ID condition.

Mental State Verb Production as a Measure of Perspective Taking in Narrations of Individuals With Down Syndrome

Introduction: Perspective taking is an important ability to enrich narrations by empathizing with a real or fictional character. Mental state verbs (MSV) are a good indicator for this ability as they serve to reflect the mindset that the narrator attributes to a protagonist. Especially syntactic abilities have been argued to be relevant for MSV use. Investigating persons with Down Syndrome (DS) is likely to provide important insights into the relationship of MSV use and syntactic abilities: MSV are mostly used in complex sentence structures, which are a frequent difficulty for individuals with this syndrome. Indeed, previous investigations have found first evidence for impaired MSV production in individuals with DS, indicating a link to syntactic abilities and expressive vocabulary. Our aim was to provide evidence on MSV production and on the syntactic context of MSV production in individuals with DS and to target a possible connection to both cognitive and language abilities using specific language assessments. Typically-developing (pre-)school children were included as a comparison group to identify impaired respectively developmentally-adequate performance.Method: 28 individuals with Down syndrome (aged 10; 0–20; 1 years) participated in a battery of cognitive, narrative and language measures. MSV-performance and syntactical context of MSV use were compared to data from 33 typically-developing children aged 3–9 years. We also analyzed the relationship between MSV production and language performance (vocabulary, syntax measures, mean length of utterance).Results: The total number and types of MSV used were comparable for individuals with DS and TD. Moreover, a syntactic analysis indicated that individuals with DS and TD use MSV in the same syntactic contexts. Nevertheless, the syntactic difficulties of participants with DS are reflected in their frequent use of MSV in sentence-fragments. Correlations over the DS group yielded that syntactic abilities were not decisive for the richness and diversity of MSV in narrations.Conclusion: Our findings suggest a comparable performance in MSV use in individuals with DS and school-aged TD children. The data indicate that MSV production is possible even with an impaired syntax suggesting unimpaired perspective taking abilities in individuals with DS.

Altered Genetic Expression Disrupts Facial Ontogenetic Trajectory in Down Syndrome and DYRK1A Haploinsufficiency

The development of the human face is a complex, dynamic and coordinated process. Disruptions to this ontogenetic process through genetic and/or environmental factors can lead to altered patterns of growth and development, causing facial dysmorphogenesis. The Dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1 A (DYRK1A) is a gene located in HSA21, which over- or under-expression is associated with cognitive impairment, facial and bone dysmorphologies, as those of Down syndrome (DS) and DYRK1A haploinsufficiency syndrome (DYRK1A). In this study, we assessed facial postnatal development and morphological variation using Geometric Morphometric methods, in a cross-sectional sample of 373 children between 0 and 18 years old, including individuals diagnosed with DS (n=62) and DYRK1A (n=14), as well as control individuals (n=297). Three-dimensional facial images were obtained using a multi-camera system and further characterization of facial shape was performed recording the 3D coordinates of 21 anatomical landmarks. Results showed a clear separation of DS, DYRK1A and control groups based on their facial shape across all stages, showing a phenotypic continuum from reduced to increased levels of DYRK1A expression. Facial differences were already present at infancy (0-5 years old) and involved changes in facial retraction, mandibular protrusion, as well as changes in the relative position of the mouth, nose and eyes. Sexual dimorphism was a significant factor after adolescence within the control group (P-value<0.001), as well as within the DS (P-value=0.04) and DYRK1A groups (P-value=0.03). Euclidean Distance Matrix Analysis (EDMA) showed that 74.7% of facial traits were significantly different in individuals with DS. These localized facial traits causing differences in DS changed over postnatal development until the adult facial phenotype was achieved. Finally, multivariate regression analysis of facial shape on age (% predicted=13.26%; P-value<0.0001) showed differences in the intercept and slope of the ontogenetic slopes of the three groups. These results highlight the processes by which these genetic syndromes significantly alter normal facial postnatal growth, increasing facial differences already established before birth. Our study suggests that changes in heterochrony can drive modifications in the rate or timing of facial development and produce morphological variation.

Characteristics of type 1 diabetes mellitus in children and adolescents with Down's syndrome in an admixed population.

People with Down's syndrome (DS) have a higher risk of developing type 1 diabetes mellitus (T1D) and may have specific clinical features compared to T1D patients without DS. This study evaluated the clinical and laboratory aspects of T1D in children and adolescents with DS in an admixed population. A case-control study comparing patients with T1D and DS (T1D+DS) to patients with T1D without DS (T1D controls) from two tertiary academic Hospitals in São Paulo, Brazil. The sample consisted of 9 patients with T1D+DS and 18 T1D age and sex-matched controls. Anti-glutamic acid decarboxylase 65 antibodies were positive in 7/7 of the 9 T1D+DS patients, confirming the presence of diabetes autoimmunity in this group. Mean age at diagnosis of T1D was 4.9 ± 3.9 years in the T1D+DS group and 6.4 years ± 3 in the T1D control group; early diagnosis (<2 years old) occurred in three T1D+DS patients but only in one T1D control patients, both suggesting lower age of diagnosis in T1D+DS group, although without statistical significance (p = 0.282 and p = 0.093, respectively). The T1D+DS group presented lower total insulin dose (0.7 IU/kg/day ± 0.2) and HbA1c (7.2% ± 0.6) than the control group (1.0 IU/kg/day ± 0.3 and 9.1% ± 0.7, respectively) (p = 0.022 and p = 0.047, respectively). We confirmed the autoimmune etiology of diabetes in people with DS in this admixed population. T1D+DS patients developed diabetes earlier and achieved better metabolic control with a lower insulin dose than T1D controls. These findings are in agreement with previous studies in Caucasian populations.

Comparison of the degree of pes planovalgus and muscle mass of the ankle joint and foot muscles between children with Down syndrome and children with typical development

We aimed to compare the degree of pes planovalgus and muscle mass of the ankle joint and foot muscles between children with Down syndrome (DS) and children with typical development (TD). We also examined the association of the degree of pes planovalgus with muscle mass of the ankle joint and foot muscles in children with DS and children with TD. The subjects were 24 children with TD (control [CTR] group) and 23 children with DS (DS group). To assess pes planovalgus, the Arch Height Index (AHI) in the standing position was measured. Muscle thickness of the ankle joint and foot muscles was measured using an ultrasound imaging device. The AHI and thickness of the soleus and tibialis posterior muscles were significantly lower in the DS group than those in the CTR group. The thickness of the flexor digitorum longus muscle was significantly greater in the DS group than that in the CTR group. Stepwise regression analysis revealed that the thickness of the flexor digitorum longus muscle was a significant and independent factor of the AHI in children comprising the CTR and DS groups. The thickness of the flexor digitorum longus muscle increased with decreasing AHI. The results of this study suggest that the AHI and muscle mass of the soleus and tibialis posterior muscles decrease, while muscle mass of the flexor digitorum longus muscle increases in children with DS. The results also indicate that decreased AHI is associated with increased muscle mass of the flexor digitorum longus muscle in children.

The impact of obstructive sleep apnea on bronchiolitis severity in children with Down syndrome

ObjectivesAcute bronchiolitis commonly causes respiratory failure in children ≤2 years, and is particularly severe in those with Down syndrome (DS). Obstructive sleep apnea (OSA), common in DS, is also associated with respiratory complications. However, it is unknown whether OSA is associated with worse outcomes in children with and without DS, hospitalized with bronchiolitis. We hypothesized that in children with bronchiolitis, OSA is associated with worse outcomes in those with DS, independent of DS-related comorbidities. MethodsHospital discharge records of children with bronchiolitis aged ≤2 years were obtained for 1997–2012 from the Kid's Inpatient Database. The primary outcome was invasive mechanical ventilation (IMV), and secondary outcomes were non-invasive mechanical ventilation (NIMV), length of hospital stay, and inflation-adjusted cost of hospitalization (IACH). Multivariable regression was conducted to ascertain the associations between OSA and primary and secondary outcomes accounting for DS-associated comorbidities. ResultsThere were 928,961 hospitalizations for bronchiolitis. The DS group with bronchiolitis (n = 8697) was more likely to have OSA [241 (2.77%) vs 1293 (0.14%), p < 0.001] compared to the non-DS group (n = 920,264). Multivariable logistic regression showed that OSA was associated with IMV (adjusted odds ratio [OR], 3.32 [95% CI 2.54–4.35], p < 0.0001) in all children with bronchiolitis; and in those with DS, it was associated with IMV (adjusted OR, 2.34 [95% CI 1.38–3.97], p = 0.002), NIMV (adjusted OR, 8.21 [95% CI 4.48–15.04], p < 0.0001) and IACH (adjusted β, 0.18 [95% CI 0.02–0.34], p = 0.031). ConclusionsOSA is independently associated with assisted ventilation in all children hospitalized with bronchiolitis, regardless of DS-associated comorbidities in those with DS. The severity of bronchiolitis in children with DS may be driven by the high prevalence of OSA.

An experiment on measuring awareness of stuttering in individuals with Down syndrome

BackgroundAwareness of stuttering is likely to depend upon the development of the metalinguistic skill to discriminate between fluent speech and stuttering and the ability to identify one’s own speech as fluent or stuttered. Presently, little is known about these abilities in individuals with Down syndrome (DS). PurposeThis study investigates whether individuals with DS and typically developing (TD) children who stutter and who do not stutter differ in their ability to discriminate between fluent speech and stuttering. The second purpose of this study is to discover if this ability is correlated with their self-identification ability. MethodAn experiment to investigate awareness with tasks for discrimination of stuttering and self-identification was developed. It was administered to 28 individuals (7–19 years) with DS, 17 of them stutter and 11 do not, and 20 TD children (3–10 years), 8 of them stutter and 12 do not. Skills to discriminate stuttering were compared between these groups and correlated with self-identification within these groups. The influence of stuttering severity and developmental/chronological age on their ability to discriminate was also investigated. ResultsThe ability to discriminate does not differ significantly between the DS and TD group, but is highly influenced by developmental age. This ability correlates with self-identification but only for the TD individuals who speak fluently. ConclusionThe ability to discriminate matures around the age of 7 and conscious awareness may rely on this ability. Differences between the present findings and earlier studies suggest that differentiation in levels and types of awareness is warranted.

Low speech rate but high gesture rate during conversational interaction in people with Cornelia de Lange syndrome

Cornelia de Lange syndrsome (CdLS) is a rare genetic syndrome with notable impaired expressive communication characterised by reduced spoken language. We examined gesture use to refine the description of expressive communication impairments in CdLS. During conversations, we compared gesture use in people with CdLS to peers with Down syndrome (DS) matched for receptive language and adaptive ability, and typically developing (TD) individuals of similar chronological age. As anticipated the DS and CdLS groups used fewer words during conversation than TD peers (P<.001). However, the CdLS group used twice the number of gestures per 100 words compared with the DS and TD groups (P=.003). Individuals with CdLS have a significantly higher gesture rate than expected given their level of intellectual disability and chronological age. This result indicates the cause of reduced use of spoken language does not extend to all forms of expressive communication.

Complexity Analysis of the Default Mode Network Using Resting-State fMRI in Down Syndrome: Relationships Highlighted by a Neuropsychological Assessment.

Background: Studies on complexity indicators in the field of functional connectivity derived from resting-state fMRI (rs-fMRI) in Down syndrome (DS) samples and their possible relationship with cognitive functioning variables are rare. We analyze how some complexity indicators estimated in the subareas that constitute the default mode network (DMN) might be predictors of the neuropsychological outcomes evaluating Intelligence Quotient (IQ) and cognitive performance in persons with DS. Methods: Twenty-two DS people were assessed with the Kaufman Brief Test of Intelligence (KBIT) and Frontal Assessment Battery (FAB) tests, and fMRI signals were recorded in a resting state over a six-minute period. In addition, 22 controls, matched by age and sex, were evaluated with the same rs-fMRI procedure. Results: There was a significant difference in complexity indicators between groups: the control group showed less complexity than the DS group. Moreover, the DS group showed more variance in the complexity indicator distributions than the control group. In the DS group, significant and negative relationships were found between some of the complexity indicators in some of the DMN networks and the cognitive performance scores. Conclusions: The DS group is characterized by more complex DMN networks and exhibits an inverse relationship between complexity and cognitive performance based on the negative parameter estimates.