Consequences of trisomy 21 for brain development in Down syndrome.

The appearance of cognitive deficits and altered brain morphology in newborns with Down syndrome (DS) suggests that these features are driven by disruptions at the earliest stages of brain development. Despite its high prevalence and extensively characterized cognitive phenotypes, relatively little is known about the cellular and molecular mechanisms that drive the changes seen in DS. Recent technical advances, such as single-cell omics and the development of induced pluripotent stem cell (iPSC) models of DS, now enable in-depth analyses of the biochemical and molecular drivers of altered brain development in DS. Here, we review the current state of knowledge on brain development in DS, focusing primarily on data from human post-mortem brain tissue. We explore the biological mechanisms that have been proposed to lead to intellectual disability in DS, assess the extent to which data from studies using iPSC models supports these hypotheses, and identify current gaps in the field.

Updated review on pulmonary arterial hypertension: Differences between down syndrome and non-down syndrome populations.

BACKGROUND: Pulmonary arterial hypertension (PAH) is a major concern in patients with Down syndrome (DS) and congenital heart disease (CHD). Understanding the unique characteristics of PAH in these populations is essential for developing tailored management strategies. This review examines differences in PAH between DS and non-DS (nDS) patients with CHD, focusing on pathophysiology, clinical presentation, hemodynamic profiles, and treatment outcomes. METHODS: A retrospective analysis of 93 adults with PAH was conducted, including 18 with DS and 75 with CHD but without DS (nDS). Data on demographics, clinical presentations, comorbidities, and hemodynamic parameters were collected using echocardiography and right heart catheterization. Statistical analyses included Mann-Whitney U tests, Student's t-tests, and Kaplan-Meier survival analysis to compare the DS and nDS groups. RESULTS: DS patients presented with PAH at a younger age (mean age 25.06 years) compared to nDS patients (mean age 42.4 years; p < 0.001). Hypothyroidism was more prevalent in DS patients (61.1 %) than in nDS patients (29.3 %; p = 0.012). Hemodynamic assessments showed lower mean arterial pressure (MAP) in DS patients (76.24 ± 11.6 mmHg) versus nDS patients (93.95 ± 15 mmHg; p < 0.001), and a higher TAPSE/PASP ratio (0.41 vs. 0.23; p = 0.009), suggesting less severe right ventricular dysfunction. DS patients had a significant survival advantage over nDS patients (p = 0.043). CONCLUSIONS: DS patients have distinct clinical and hemodynamic profiles in PAH, requiring personalized management. Early detection and tailored treatment are crucial for improving outcomes. Further research should refine these strategies and explore new therapies.

The effect of dual-task training on postural and cognitive performances in adolescents with down syndrome.

BACKGROUND: The dual task training (DTT) has been shown to improve postural and cognitive performances in many populations. Therefore, it seems of interest to explore the effect of such training modality in individuals with Down syndrome (DS) presenting both cognitive and postural deficits. AIMS: This study explored the effect of a DTT compared to a single task training (STT) on postural and cognitive performances in adolescents with DS. METHODS AND PROCEDURES: The center of pressure velocity (CoPVm) and the cognitive performance in the selective word recall test were recorded under single task (ST) and DT conditions before and after 8 weeks in the STT group (STTG), the DTTG and the control group (CG). OUTCOMES AND RESULTS: Before training, CoPVm values increased and cognitive performances decreased (p < 0.001) during the DT compared to ST conditions in all groups. After training, CoPVm decreased (p < 0.001) in the DTTG and the STTG under the ST conditions. However, under DT conditions, these values decreased (p < 0.001) only in the DTTG. The cognitive performance increased (p < 0.001) only in the DTTG in both ST and DT conditions. CONCLUSION: The DTT is strongly recommended to improve both postural and cognitive performances in individuals with DS notably in DT conditions.

Characterising repetitive behaviours in children and adolescents with Down syndrome.

BACKGROUND: Individuals with intellectual disability, including people with Down syndrome (DS), often exhibit restricted and repetitive behaviours (RRBs). However, RRBs have not been deeply characterised in children and adolescents with DS. METHOD: The study encompassed a cohort of 151 participants aged 4 to 18 years with DS. RRBs were assessed utilising the Repetitive Behaviour Scale-Revised. Additionally, data pertaining to cognitive and adaptive functioning, linguistic abilities, sleep patterns and emotional/behavioural issues were gathered. RESULTS: Self-injurious behaviours were reported less frequently whereas parents most commonly endorsed items related to behaviours associated with the need for sameness and ritualistic behaviours. We observed very few gender differences, whereas some age-related differences emerged, with adolescents exhibiting higher scores in items related with higher-level RRBs. The analysis of the association between RRBs and clinical features revealed that RRBs were associated with parent-reported sleep difficulties, as well as with internalising and externalising problems. We also observed a negative correlation with IQ whereas associations with adaptive skills emerged mainly for lower-level RRBs, such as motor stereotypies. Finally, RRBs were negatively associated with linguistic abilities, both expressive and receptive. CONCLUSIONS: RRBs in children and adolescents with DS are of significant clinical interest due to their associations with various clinical dimensions. Therefore, psychological and neuropsychiatric assessment should include an accurate evaluation of RRBs for young people with DS.

Alterations in aperiodic and periodic EEG activity in young children with Down syndrome.

Down syndrome (DS) is the most common cause of intellectual disability, yet little is known about the neurobiological pathways leading to cognitive impairments. Electroencephalographic (EEG) measures are commonly used to study neurodevelopmental disorders, but few studies have focused on young children with DS. Here we assess resting state EEG data collected from toddlers/preschoolers with DS (n = 29, age 13-48 months old) and compare their aperiodic and periodic EEG features with both age-matched (n = 29) and developmental-matched (n = 58) comparison groups. DS participants exhibited significantly reduced aperiodic slope, increased periodic theta power, and decreased alpha peak amplitude. A majority of DS participants displayed a prominent peak in the theta range, whereas a theta peak was not present in age-matched participants. Overall, similar findings were also observed when comparing DS and developmental-matched groups, suggesting that EEG differences are not explained by delayed cognitive ability.

Laboratory-based measures of executive function and daily living skills in young children with Down syndrome: informing future interventions.

BACKGROUND: Adaptive behaviour refers to the practical skills necessary for independence and is considered a high-priority intervention target for children with neurogenetic conditions associated with intellectual disability, like Down syndrome (DS). Daily living skills (DLS) are a critical aspect of adaptive behaviour, but they have received little intervention attention, possibly because they involve a wide variety of skills across many settings. The present study aimed to advance DLS intervention science by examining the concurrent and longitudinal association between DLS performances and a cognitive skillset hypothesised to support DLS skill acquisition, executive function (EF). METHODS: Participants were 71 children with DS between the ages of 2.5 and 8.7 years (M = 5.23 years; standard deviation = 1.65) who completed a battery of adapted EF tasks and a primary caregiver who completed the Vineland Adaptive Behavior Scales 3rd Edition Parent/Caregiver Comprehensive Report Form. A subset of caregivers also provided 6- and 12-month follow-up adaptive behaviour information. RESULTS: Results demonstrated a positive association between EF task performance and DLS standard scores and v-scores both concurrently and longitudinally. CONCLUSIONS: The findings have implications for potential future intervention approaches that aim to strengthen DLS performances by advancing EF skills in this population.

Sources of reduced visual acuity and spectacle treatment options for individuals with Down syndrome: Review of current literature.

Individuals with Down syndrome are known to have a greater prevalence of ocular conditions such as strabismus, nystagmus, elevated refractive error, poor accommodative function, elevated higher-order optical aberrations and corneal abnormalities. Related to these conditions, individuals with Down syndrome commonly have reduced best-corrected visual acuity at both far and near viewing distances across their lifespan. This review summarises the various optical sources of visual acuity reduction in this population and describes clinical trials that have evaluated alternative spectacle prescribing strategies to minimise these optical deficits. Although refractive corrections may still have limitations in their ability to normalise visual acuity for individuals with Down syndrome, the current literature provides evidence for eye care practitioners to consider in their prescribing practices for this population to maximise visual acuity. These considerations include accounting for the presence of elevated higher-order aberrations when determining refractive corrections and considering bifocal lens prescriptions, even for young children with Down syndrome.

A crossover study on attentional focus and gross motor performance in individuals with Down syndrome.

Little is known about the effect of using an attentional focus instruction on motor performance in people with intellectual disabilities. Therefore, this study explored the effects of different attentional focus instructions on gross motor skill performances in individuals with Down syndrome. Seven community-dwelling participants (age 25.2±3.2 yrs, height 1.70±0.04 m, body mass 72.0±6.3 kg) voluntarily participated in the study. Motor performance on 5-meter running (5m sprint), vertical jump (countermovement jump with arm swing, CMJ), broad jump (standing broad jump, SBJ), forward medball throw (FMBT) or overhead medball backward throw (OMBT) and rising-up from a chair (five repetition sit-to-stand, 5STS) were recorded while performing internal-focus (IF) or external-focus (EF) instructions. EF induced significantly (p<0.05) better performance than IF in CMJ (EF: 15±9 cm; IF: 11±8 cm, median ±interquartile range), SBJ (EF: 0.8±1.05 m; IF: 0.5±1.0 m), FMBT (EF: 1.5±1.4 m; IF: 1.4±1.1 m), OMBT (EF: 4.0±1.5 m; IF: 3.6±1.1 m) and 5STS (EF: 14.2±5.4; IF:15.3±7.7 s). The time over the 5m sprint tended to be shorter with EF (4.0±2.0 s) than IF (5.05±3.3 s) but the difference did not reach the statistical significance (p = 0.29). Physical trainers and school teachers should be encouraged to manage different types of attentional focus instructions to improve cognitive and gross motor performances in persons with Down syndrome.

Speech Recognition and Spatial Hearing in Young Adults With Down Syndrome: Relationships With Hearing Thresholds and Auditory Working Memory.

OBJECTIVES: Individuals with Down syndrome (DS) have a higher incidence of hearing loss (HL) compared with their peers without developmental disabilities. Little is known about the associations between HL and functional hearing for individuals with DS. This study investigated two aspects of auditory functions, "what" (understanding the content of sound) and "where" (localizing the source of sound), in young adults with DS. Speech reception thresholds in quiet and in the presence of interferers provided insight into speech recognition, that is, the "what" aspect of auditory maturation. Insights into "where" aspect of auditory maturation were gained from evaluating speech reception thresholds in colocated versus separated conditions (quantifying spatial release from masking) as well as right versus left discrimination and sound location identification. Auditory functions in the "where" domain develop during earlier stages of cognitive development in contrast with the later developing "what" functions. We hypothesized that young adults with DS would exhibit stronger "where" than "what" auditory functioning, albeit with the potential impact of HL. Considering the importance of auditory working memory and receptive vocabulary for speech recognition, we hypothesized that better speech recognition in young adults with DS, in quiet and with speech interferers, would be associated with better auditory working memory ability and receptive vocabulary. DESIGN: Nineteen young adults with DS (aged 19 to 24 years) participated in the study and completed assessments on pure-tone audiometry, right versus left discrimination, sound location identification, and speech recognition in quiet and with speech interferers that were colocated or spatially separated. Results were compared with published data from children and adults without DS and HL, tested using similar protocols and stimuli. Digit Span tests assessed auditory working memory. Receptive vocabulary was examined using the Peabody Picture Vocabulary Test Fifth Edition. RESULTS: Seven participants (37%) had HL in at least 1 ear; 4 individuals had mild HL, and 3 had moderate HL or worse. Participants with mild or no HL had ≥75% correct at 5° separation on the discrimination task and sound localization root mean square errors (mean ± SD: 8.73° ± 2.63°) within the range of adults in the comparison group. Speech reception thresholds in young adults with DS were higher than all comparison groups. However, spatial release from masking did not differ between young adults with DS and comparison groups. Better (lower) speech reception thresholds were associated with better hearing and better auditory working memory ability. Receptive vocabulary did not predict speech recognition. CONCLUSIONS: In the absence of HL, young adults with DS exhibited higher accuracy during spatial hearing tasks as compared with speech recognition tasks. Thus, auditory processes associated with the "where" pathways appear to be a relative strength than those associated with "what" pathways in young adults with DS. Further, both HL and auditory working memory impairments contributed to difficulties in speech recognition in the presence of speech interferers. Future larger-sized samples are needed to replicate and extend our findings.

Modeling the impact of neuromorphological alterations in Down syndrome on fast neural oscillations.

Cognitive disorders, including Down syndrome (DS), present significant morphological alterations in neuron architectural complexity. However, the relationship between neuromorphological alterations and impaired brain function is not fully understood. To address this gap, we propose a novel computational model that accounts for the observed cell deformations in DS. The model consists of a cross-sectional layer of the mouse motor cortex, composed of 3000 neurons. The network connectivity is obtained by accounting explicitly for two single-neuron morphological parameters: the mean dendritic tree radius and the spine density in excitatory pyramidal cells. We obtained these values by fitting reconstructed neuron data corresponding to three mouse models: wild-type (WT), transgenic (TgDyrk1A), and trisomic (Ts65Dn). Our findings reveal a dynamic interplay between pyramidal and fast-spiking interneurons leading to the emergence of gamma activity (∼40 Hz). In the DS models this gamma activity is diminished, corroborating experimental observations and validating our computational methodology. We further explore the impact of disrupted excitation-inhibition balance by mimicking the reduction recurrent inhibition present in DS. In this case, gamma power exhibits variable responses as a function of the external input to the network. Finally, we perform a numerical exploration of the morphological parameter space, unveiling the direct influence of each structural parameter on gamma frequency and power. Our research demonstrates a clear link between changes in morphology and the disruption of gamma oscillations in DS. This work underscores the potential of computational modeling to elucidate the relationship between neuron architecture and brain function, and ultimately improve our understanding of cognitive disorders.

Down syndrome and postoperative hemodynamics in patients undergoing surgery for congenital cardiac communications.

Although Down syndrome (DS) is considered a risk factor for hemodynamic instabilities (mainly pulmonary hypertension-PH) following surgery for congenital cardiac communications, many DS patients do surprising well postoperatively. We prospectively analyzed perioperative factors for a possible correlation with post-cardiopulmonary bypass (CPB) inflammatory reaction and postoperative PH in pediatric subjects. Sixty patients were enrolled (age 3 to 35 months), 39 of them with DS. Clinical and echocardiographic parameters (anatomical and hemodynamic) were computed preoperatively. Pulmonary and systemic mean arterial pressures (PAP and SAP) were assessed invasively intra and postoperatively. Immediate postoperative PAP/SAP ratio (PAP/SAPIPO) and the behavior of pressure curves were selected as primary outcome. Serum levels of 36 inflammatory proteins were measured by chemiluminescence preoperatively and 4 h post CPB. Of all factors analyzed, peripheral oxygen saturation (O2Sat, bedside assessment) was the only preoperative predictor of PAP/SAPIPO at multivariate analysis (p = 0.007). Respective values in non-DS, DS/O2Sat ≥ 95% and DS/O2Sat < 95% subgroups were 0.34 (0.017), 0.40 (0.027) and 0.45 (0.026), mean (SE), p = 0.004. The difference between non-DS and DS groups regarding postoperative PAP curves (upward shift in DS patients, p = 0.015) became nonsignificant (p = 0.114) after adjustment for preoperative O2Sat. Post-CPB levels of at least 5 cytokines were higher in patients with O2Sat < 95% versus those at or above this level, even within the DS group (p < 0.05). Thus, a baseline O2Sat < 95% representing pathophysiological phenomena in the airways and the distal lung, rather than DS in a broad sense, seems to be associated with post-CPB inflammation and postoperative PH in these patients.

Intricacies of aging and Down syndrome.

Down syndrome is the most frequently occurring genetic condition, with a substantial escalation in risk associated with advanced maternal age. The syndrome is characterized by a diverse range of phenotypes, affecting to some extent all levels of organization, and its progeroid nature - early manifestation of aspects of the senile phenotype. Despite extensive investigations, many aspects and mechanisms of the disease remain unexplored. The current review aims to provide an overview of the main causes and manifestations of Down syndrome, while also examining the phenomenon of accelerated aging and exploring potential therapeutic strategies.

Spatial exploration and navigation in Down syndrome and Williams syndrome.

We know little about the ability to explore and navigate large-scale space for people with intellectual disability (ID). In this cross-syndrome study, individuals with Down syndrome (DS), individuals with Williams syndrome (WS) and typically developing children (TD; aged 5-11 years) explored virtual environments with the goal of learning where everything was within the environment (Experiment 1) or to find six stars (Experiment 2). There was little difference between the WS and DS groups when the goal was simply to learn about the environment with no specific destination to be reached (Experiment 1); both groups performed at a level akin to a subset of TD children of a similar level of non-verbal ability. The difference became evident when the goal of the task was to locate targets in the environment (Experiment 2). The DS group showed the weakest performance, performing at or below the level of a subset of TD children at a similar level of non-verbal ability, whilst the WS group performed at the level of the TD subset group. The DS, WS and TD group also demonstrated different patterns of exploration behavior. Exploration behaviour in DS was weak and did not improve across trials. In WS, exploration behavior changed across trials but was atypical (the number of revisits increased with repeated trials). Moreover, transdiagnostic individual difference analysis (Latent Profile Analysis) revealed five profiles of exploration and navigation variables, none of which were uniquely specific to DS or to WS. Only the most extreme profile of very poor navigators was specific to participants with DS and WS. Interestingly, all other profiles contained at least one individual with DS and at least one individual with WS. This highlights the importance of investigating heterogeneity in the performance of individuals with intellectual disability and the usefulness of a data-driven transdiagnostic approach to identifying behavioral profiles.

A multi-center cross-sectional comparison of parent-reported quality of life and bowel function between anorectal malformation and Hirschsprung's disease patients with versus those without Down syndrome.

PURPOSE: Down syndrome (DS) is a common abnormality associated with anorectal malformation (ARM) and Hirschsprung's disease (HD). However, quality of life (QOL) in ARM and HD patients with DS is under-researched. This study compares parent-reported QOL and bowel function in ARM and HD patients with DS to those without. METHODS: Between December 2020 to February 2023, parents of ARM and HD patients with and without DS aged 3-17 years who had undergone surgery > 12 months prior at four tertiary referral centers were recruited. We used the Pediatric Quality of Life Inventory™ (PedsQL™) Generic Core Scales, General Well-Being (GWB) Scale and Family Impact (FI) Module questionnaires, and the Rintala bowel function score (BFS). RESULTS: There were 101 ARM, 9 (8.9%) of whom had DS; and 87 HD, of whom 6 (6.9%) had DS. Parent-reported Core scores in ARM and HD with DS were comparable to those without DS. However, ARM and HD with DS had worse scores in the FI Module and bowel function than those without DS. CONCLUSION: Although parent-reported QOL in ARM and HD with DS is similar to those without DS, family impact and BFS are worse. Our findings are limited by small sample size in proportion of DS patients.

Vocabulary and expressive morpho-syntax in individuals with Down syndrome: Links to narration.

BACKGROUND: Narrative ability is crucial for social participation in everyday and school life but involves different language abilities such as vocabulary and morpho-syntax. This is particularly difficult for individuals who display both language and cognitive impairments. Previous research has identified productive vocabulary as a possible key factor for narrative performance in individuals with Down syndrome. Considering a close connection between lexical and morpho-syntactic performance within language acquisition and the distinct impairments that individuals with Down syndrome display concerning their morpho-syntactic skills, the nature of a relation between vocabulary and narrative skills under the influence of grammatical deficits requires further investigation. METHODS: Narrations were obtained from 28 children and adolescents with Down syndrome (aged 10;0-20;1) using a non-verbal picture book. Narrative abilities were rated using the Narrative Scoring Scheme across seven narrative aspects (including macro- and microstructure). Vocabulary analyses and morpho-lexical context analyses including verb and conjunction enumerations, evaluation of verb position and MLU were conducted. Findings from the transcript analysis have been supplemented with data from standardized language measures evaluating expressive lexical and morpho-syntactic development. A multiple regression analysis was conducted to identify significant predictors for narrative outcome in the participants with Down syndrome. RESULTS: Lexical analyses revealed a high heterogeneity in production of subordinating conjunctions as a link between lexical and morpho-syntactic abilities. Comparisons of standardized and narrative data demonstrated differences in subordinate clause production depending on the elicitation setting. A multiple regression analysis identified the number of different verbs in the narrative task as the most significant predictor for narrative performance in individuals with Down syndrome. DISCUSSION AND IMPLICATIONS: The findings of this study contribute to the knowledge regarding factors that influence narrative performance in individuals with language impairment. A differentiated verb lexicon can be identified as the key ability for reaching advanced narrative skills in participants with Down syndrome. These findings are of clinical relevance for therapeutic and educational support and contribute to an understanding of the relation between strengths in vocabulary and morpho-syntactic weaknesses in individuals with Down syndrome within communicative participation.

Developmental associations between cognition and adaptive behavior in intellectual and developmental disability.

BACKGROUND: Intellectual and developmental disabilities (IDDs) are associated with both cognitive challenges and difficulties in conceptual, social, and practical areas of living, commonly referred to as adaptive behavior (DSM-5). Although cross-sectional associations between intelligence or cognition and adaptive behavior have been reported in IDD populations, no study to date has examined whether developmental changes in cognition contribute to or track with changes in adaptive behavior. The present study sought to examine associations of longitudinal developmental change in domains of cognition (NIH Toolbox Cognition Battery, NIHTB-CB) and adaptive behavior domains (Vineland Adaptive Behavior Scales-3; VABS-3) including Socialization, Communication, and Daily Living Skills (DLS) over a two year period in a large sample of children, adolescents and young adults with IDD. METHODS: Three groups were recruited, including those with fragile X syndrome, Down syndrome, and other/idiopathic intellectual disability. Eligible participants (n = 263) included those who were between 6 and 26 years (mage = 15.52, sd = 5.17) at Visit 1, and who had a diagnosis of, or suspected intellectual disability (ID), including borderline ID, with a mental age of at least 3.0 years. Participants were given cognitive and adaptive behavior assessments at two time points over a two year period (m = 2.45 years, range = 1.27 to 5.56 years). In order to examine the association of developmental change between cognitive and adaptive behavior domains, bivariate latent change score (BLCS) models were fit to compare change in the three cognitive domains measured by the NIHTB-CB (Fluid Cognition, Crystallized Cognition, Total Cognition) and the three adaptive behavior domains measured by the VABS-3 (Communication, DLS, and Socialization). RESULTS: Over a two year period, change in cognition (both Crystallized and Total Composites) was significantly and positively associated with change in daily living skills. Also, baseline cognition level predicted growth in adaptive behavior, however baseline adaptive behavior did not predict growth in cognition in any model. CONCLUSIONS: The present study demonstrated that developmental changes in cognition and adaptive behavior are associated in children and young adults with IDD, indicating the potential for cross-domain effects of intervention. Notably, improvements in DLS emerged as a primary area of adaptive behavior that positively related to improvements in cognition. This work provides evidence for the clinical, "real life" meaningfulness of changes in cognition detected by the NIHTB-CB in IDD, and provides empirical support for the NIHTB-CB as a fit-for-purpose performance-based outcome measure for this population.

Organised and non-organised activities contribute to overall physical activity levels in adolescents and young adults with Down syndrome: a cross-sectional study.

BACKGROUND: Participation in organised and non-organised physical activities among adolescents and young adults with Down syndrome is underexplored. This study aimed to examine differences between organised and non-organised physical activities among adolescents and young adults with Down syndrome. METHODS: Forty participants with Down syndrome (27 woman; mean age 21.4 ± 4.9 years) were recruited. Data on physical activity participation were collected by self- or proxy-reported questionnaires about attendance, involvement and type of physical activity. RESULTS: Adolescents and young adults with Down syndrome participated in more organised than non-organised activities (P < 0.05), more often (P < 0.05), but there was no difference in the total time spent participating in these activities overall. Participants spent more time in vigorous physical activity during organised activities (P < 0.05) and spent more time in light physical activity during non-organised physical activities (P < 0.05). Dancing (organised activity) and walking (non-organised activity) were the most reported activities. CONCLUSIONS: Participation in both organised and non-organised physical activities is important to increase overall physical activity levels of adolescents and young adults with Down syndrome. Future research exploring physical activity preferences may help guide the planning and adaption of community programmes for this group.

Foot Muscle Exercise: A Novel Approach to Improve Motor Functions in Children with Down Syndrome Having Pes Planus - A Randomized Controlled Trial.

OBJECTIVE: The study aimed to determine the efficacy of foot muscle exercises in children with DS having pes planus. METHODS: Forty-seven subjects randomly assigned to foot muscle exercises (study group) or an arch support insole with one-leg balance exercises (control group), thrice weekly intervention for 12-weeks followed by a home program with residual effect assessed after 24-weeks from baseline. RESULTS: The motor functions were significantly improved in both groups (p = 0.00). A positive residual effect was found in the study group for both parameters. Whilst in the control group it failed to give a positive residual effect for GMFM-88, while PBS yielded positive outcomes. The study group showed significantly better results than the control group in comparison. CONCLUSION: The novel finding suggests that the foot muscle exercise has the potential to improve motor functions in children with Down syndrome and it can be used as an alternative therapeutic approach to the conventional method.

Pediatric cervical spine instability: evolving concepts.

The pediatric cervical spine is structurally and biomechanically unique in comparison to adults. Guidelines to assess for cervical spine instability and standard of care treatments in the pediatric population have yet to be delineated. This is due to the rarity of the condition and the lack of multicenter data published on the topic. Our review explores the biomechanics of the pediatric cervical spine and highlights evolving concepts/research over the last several decades, with special attention to the Down syndrome and complex Chiari malformation cohorts.

Swim, Strength, or Combined Programs: Effect on Health-Related Physical Fitness in Adolescents With Down Syndrome.

The adolescent population with Down syndrome (DS) appears to show higher levels of body fat and lower levels of cardiorespiratory fitness or muscle strength than their peers without disabilities. There is a need to create physical activity programs to improve these data. The aim of this research was to determine the effects of a 16-week swimming program, strength program, and combined program (swimming and strength training) on body composition and health-related physical fitness on adolescents with DS and to assess whether there are differences in the results of the different training programs. Forty-five adolescents (17 female and 28 male; average age 15.5 [1.53] years) with DS were recruited and randomized to three groups (swim [n = 15], strength [n = 15], and combined [n = 15]). Results showed that the swim group had significant improvements in all health-related physical fitness variables and there was an improvement in some body-composition variables (p < .05). The strength and combined groups obtained minor improvements in the variables analyzed. In summary, a 16-week swim program consisting of three sessions of 60 min is able to improve levels of body composition and health-related physical fitness in adolescents with DS. The swim training program seems to be more effective in improving body composition and health-related physical fitness than the strength or combined program. These findings could be useful in different special-education centers due to the predisposition shown by the population with DS to this sport modality.