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Down syndrome (DS) is the most often diagnosed chromosomal disorder in newborns. The incidence is 1:792 live births. The article describes the irregularities and characteristics found in trisomy 21, which greatly affect the functioning of the stomatognathic system. The most significant disorders include the following: false macroglossia, muscular hypotonia and gothic palate. These abnormalities affect articulation, breathing, food intake, and swallowing. We analyzed the morphological characteristics of the craniofacial region in children with DS based on the current literature review. The following databases were used for the analysis: MEDLINE (via PubMed), Scopus, Infona, and Dentistry & Oral Sciences Source. In the course of the study, 199 pieces of literature were analyzed; the analysis also included 18 articles on children and adults with DS. It also took into account the structure of the palate, dental and skeletal defects, size of the tongue, muscular hypotonia, and temporomandibular joint dysfunction. Down syndrome is still a current subject of research. Although macroglossia, hypotonia, malocclusion, and temporomandibular joint abnormalities are not features exclusive to DS, numerous dysfunctions and parafunctions as well as retarded psychomotor development greatly complicate the treatment. Therefore, interdisciplinary treatment of patients with trisomy 21 and early treatment in the first months of life with the use of the Castillo-Morales plate are very important, as they ensure better adaptation to the subsequently used apparatus and reduce the risk of disorders of the stomatognathic system.

Purpose: In this study, the authors compared indirect estimates of jaw-muscle tension in children with suspected muscle-tone abnormalities with age- and gender-matched controls., Method: Jaw movement and muscle activation were measured in children (ages 3 years, 11 months, to 10 years) with suspected muscle-tone abnormalities (Down syndrome or spastic cerebral palsy; n = 10) and controls (n = 11). Two measures were used to infer jaw tension: a kinematic index of mass-normalized stiffness and electromechanical delay (EMD). The kinematic index used video-based kinematics to obtain the slope of the peak velocity-displacement relationship. The EMD was derived from the interval between the onset of suprahyoid muscle activity and the onset of jaw depression., Results: Neither measure differentiated the groups. The kinematic index revealed differences between stressed and unstressed syllables in 3-syllable productions by the participants with cerebral palsy and controls, but not in 2-syllable productions by the participants with Down syndrome and controls., Conclusion: This preliminary investigation included the novel application of 2 measures to infer the jaw-muscle tension of children with suspected tone abnormalities. Although the results do not support the hypothesis that suspected muscle-tone abnormalities affect jaw movement sufficiently to influence speech production, considerations for interpreting the findings include methodological limitations and possible compensatory muscle coactivation.

In this study, we assessed kinematics and viscoelastic features of knee joint in adults with Down syndrome (DS) by means of the Wartenberg pendulum test. This test allows the measuring of the kinematics of the knee joint during passive pendular motion of leg under the influence of gravity. In addition, by a combination of kinematic and anthropometric data, pendulum test provides estimates of joint viscoelastic properties by computing damping and stiffness coefficients. To monitor the occurrences of muscle activation, the surface electromyogram (EMG) of muscle rectus femoris was recorded. The experimental protocol was performed in a group of 10 adults with DS compared with 10 control adults without DS. Joint motion amplitude, velocity, and acceleration of the leg during the first knee flexion significantly decreased in persons with DS with respect to those without DS. This behavior was associated with the activation of rectus femoris in subjects with DS that resulted in increasing of joint resistance shortly after the onset of the first leg flexion. The EMG bursts mostly occurred between 50 and 150 ms from the leg flexion onset. During the remaining cycles of pendular motion, persons with DS exhibited passive leg oscillations with low tonic EMG activity and reduced damping coefficient compared with control subjects. These results suggest that adults with DS might perform preprogrammed contractions to increase joint resistance and compensate for inherent joint instability occurring for quick and unpredictable perturbations. The reduction of damping coefficients observed during passive oscillations could be a predictor of muscle hypotonia.

People suffering from Ehlers-Danlos syndrome (EDS) hypermobility type present a severe ligament laxity that results in difficulties in muscle force transmission. The same condition is present in people suffering from Down syndrome (DS) even if their clumsy movements are due to cerebral and cognitive impairments. The aim of this study was to quantify the gait patterns of subjects with EDS and with DS using Gait Analysis (GA). We quantified the gait strategy in 12 EDS individuals and in 16 participants with DS. Both pathological groups were compared to 20 age-matched healthy controls in terms of kinematics and kinetics. Results showed that DS individuals are characterized by a more compromised gait pattern than EDS participants, even if both groups are characterized by joint hypermobility. All the patients showed significant decreased of ankle stiffness probably due to congenital hypotonia and ligament laxity, while different values of hip stiffness. These findings help to elucidate the complex biomechanical changes due to joint hypermobility and may have a major role in the multidimensional evaluation and tailored management of these patients., (Copyright © 2012 Elsevier Ltd. All rights reserved.)

This chapter reviews the neurological phenotype of Down syndrome (DS) in early development, childhood, and aging. Neuroanatomic abnormalities in DS are manifested as aberrations in gross brain structure as well as characteristic microdysgenetic changes. As the result of these morphological abnormalities, brain circuitry is impaired. While an intellectual disability is ubiquitous in DS, there is a wide range of variation in cognitive performance and a growing understanding between aberrant brain circuitry and the cognitive phenotype. Hypotonia is most marked at birth, affecting gait and ligamentous laxity. Seizures are bimodal in presentation with infantile spasms common in infancy and generalized seizures associated with cognitive decline observed in later years. While all individuals have the characteristic neuropathology of Alzheimer's disease (AD) by age 40 years, the prevalence of dementia is not universal. The tendency to develop AD is related, in part, to several genes on chromosome 21 that are overexpressed in DS. Intraneuronal accumulation of β-amyloid appears to trigger a cascade of neurodegeneration resulting in the neuropathological and clinical manifestations of dementia. Functional brain imaging has elucidated the temporal sequence of amyloid deposition and glucose metabolic rate in the development of dementia in DS. Mitochondrial abnormalities contribute to oxidative stress which is part of AD pathogenesis in DS as well as AD in the general population. A variety of medical comorbidities threaten cognitive performance including sleep apnea, abnormalities in thyroid metabolism, and behavioral disturbances. Mouse models for DS are providing a platform for the formulation of clinical trials with intervention targeted to synaptic plasticity, brain biochemistry, and morphological brain alterations., (Copyright © 2012 Elsevier B.V. All rights reserved.)

Previous work has highlighted delays and differences in cognitive, language, and sensorimotor functions in children diagnosed with Down syndrome (DS). However, sensory processing and visual organization abilities have not been well-examined in DS to date. This study aimed to investigate the developmental profile of sensory processing and visual organization abilities, body functions classified by the World Health Organization's ICF model, and their impacts on participation in DS to guide research and evidence-based practices. Two hundred and six children (101 boys, 105 girls) with DS (age range = 6 years 1 month to 12 years 10 months; mean age = 8 years 1 month) were assessed on measures of sensory processing (Sensory Profile), visual organization ability (Hooper Visual Organization Test), and activity participation (Vineland Adaptive Behavior Scale, School Function Assessment). Our findings characterized the developmental continuum of body functions (sensory processing and visual organization) of children with DS, and revealed their correlations with activity participation. Interventions focused on improving body functions is needed while stressing the acquisition of functional skills that increase participation in age-appropriate activities., (Copyright © 2011 Elsevier Ltd. All rights reserved.)

The goal of this work was to analyze postural control in Down syndrome (DS) participants considering three different groups composed by children, teenagers and adults with DS. An analysis of the centre of pressure (COP) displacement during standing position was therefore performed for the three groups of subjects. The obtained signal of COP was then analyzed in both time and frequency domains in order to perform a thorough analysis of the signal. Even if several parameters revealed more differences between the control and DS participants in adulthood, results indicated a divergence of these two groups starting from their early age, although the limit of this study considering a cross-sectional, and not a longitudinal comparison. In particular, COP medio-lateral range of motion pointed out a decrease for both groups considered (pathological and control) in time domain analysis that could lead to the same conclusion in developing strategies, but frequency domain analysis evidenced how this result is reached by the different population: DS people showed a larger frequency of movement in ML more evidenced in adults group (Down Syndrome Adults Group vs. Adults Control Group; 0.35 ± 0.22 Hz vs. 0.17 ± 0.15 Hz; p < 0.05). Even if less pronounced also for the other parameters computed these differences emerged. Aims for the two macro-groups, DS and CG, are different: DS people focused on overcoming the lack of equilibrium caused by hypotonia and ligament laxity, while control group attempted to improve their strategy in term of efficiency, pointing out a different strategy development., (Copyright © 2010 Elsevier Ltd. All rights reserved.)

The purpose of this study was to assess the respiratory muscle strength (RMS) in individuals with mental retardation (MR), with or without Down Syndrome (DS), and its association with bone mineral density (BMD). Forty-five male individuals (15 with DS, 15 with mental retardation (MR) and 15 apparently healthy controls), aged 20-35, participated in this study. Subject assessment included pulmonary function tests, RMS (maximal inspiratory pressure, MIP, and maximal expiratory pressure, MEP) and BMD of the second and fourth lumbar vertebrae. ANOVA was used to test differences amongst groups. Tukey post hoc test was utilized when significant differences were detected with ANOVA. Bivariate correlation for BMD and respiratory muscle strength was calculated with Pearson's coefficient of correlation. Individuals with MR, both with and without DS, have lower FEV1, FVC, MIP and MEP (p<0.001) compared to controls. Individuals with DS also had lower BMD, which was associated with lower MIP and MEP. Hypotonia, sedentary lifestyle and obesity are factors that may explain lower MIP and MEP in DS. Strategies to increase RMS could decrease the risk of osteoporosis in the DS population., (Copyright © 2010 Elsevier Ltd. All rights reserved.)

Hypotonia, ligament laxity and motor alterations are characteristic for patients with Down syndrome (DS). The purpose of this study was the evaluation of typical gait pattern of subjects with Down syndrome and the quantification of their joint stiffness, connected with ligament laxity and hypotonia, as a possible compensation. 98 children with DS (mean age: 11.7 years; range: 6-15 years) and 30 healthy children (control group (CG); mean age: 11 years; range: 5-13 years) underwent full 3D gait analysis at self-selected speed. Subjects with DS walked with more hip flexion during the whole gait cycle, knee flexion in stance phase, a limitation of the knee range of motion, and plantarflexion of the ankle at initial contact. Ankle power was limited as evident in terminal stance and pre-swing, represented by a low propulsive capacity at push-off, too. Hip joint stiffness was increased in general in patients with DS versus normal subjects while ankle joint stiffness revealed a lower value instead.

Background: Orofacial regulation therapy for children with Down's syndrome was introduced to Europe in Munich in 1978. Since then, many clinical studies have provided scientific evidence that this therapeutic approach enhances the orofacial function and facial appearance of children with trisomy 21. Only few long-term results have been published to date., Patients and Results: In the present study, 20 children with trisomy 21 were examined more than 12 years after starting treatment in infancy with a Castillo Morales stimulating plate. The follow-up examination showed that the improved orofacial appearance resulting from the early treatment had remained stable in most cases. Although the mechanical stimulus of the stimulating plate was absent during the follow-up period, some patients revealed a lip and tongue posture superior to that recorded at baseline., Conclusion: According to the results of the present study, the orofacial status in early childhood is decisive for the subsequent development of the orofacial region and the long-term stability of the achieved improvements: Children with a pronounced orofacial dysfunction showed a greater stimulation-plate-induced improvement than those with initially moderate orofacial findings. This observation was confirmed by the findings of the 12-year follow-up: Children with Down's syndrome and initially slight orofacial impairment displayed only slight improvements or unchanged findings.

Unlabelled: The aim of this study was to gain a better understanding of the development of sucking behavior in infants with Down's syndrome. The sucking behavior of 14 infants with Down's syndrome was consecutively studied at 1, 4, 8 and 12 mo of age. They were free from complications that may cause sucking difficulty. The sucking pressure, expression pressure, frequency and duration were measured. In addition, an ultrasound study during sucking was performed in sagittal planes. Although levels of the sucking pressure and duration were in the normal range, significant development occurred with time. Ultrasonographic images showed deficiency in the smooth peristaltic tongue movement., Conclusion: The sucking deficiency in Down's syndrome may result from not only hypotonicity of the perioral muscles, lips and masticatory muscles, but also deficiency in the smooth tongue movement. This approach using the sucking pressure waveform and ultrasonography can help in the examination of the development of sucking behavior, intraoral movement and therapeutic effects.

The biomechanical characteristics of the ankle during gait of 17 participants with Down syndrome, ages 8 to 36 years, were investigated. Ten volunteers without disabilities of comparable anthropometric parameters were the control group. A 3-dimensional gait analysis was performed using an optoelectronic system equipped with a force platform. Participants with Down syndrome showed significant decreases of plantar-flexor moments and of A1 and A2 joint powers. Furthermore, correlation between kinetic and temporal spatial parameters was markedly reduced or weak in comparison to the control group. These results point out a hypofunctioning of ankle, probably due to hypotonia and ligament laxity.

Developmental studies of postural regulations have contributed to a field of developmental neurology, and one of the most efficient approaches may be a measurement of plantar contact pressure patterns. In the present study, a photoelasticity technique which can visualize the loading force as isochromatic circle patterns was used as a "sensor" part for quantification of plantar pressure. Children with Down syndrome (DS) (n = 18) known to have marked muscular hypotonicity were examined as a clinical model for functional evaluation of plantar arches in respect to body-weight-loading distribution. The results showed that the first fringe number in DS is significantly increased and Cv value for the local force supporting the body weight of DS children is significantly decreased. This type of analytical method proves to be useful for objective evaluation of musculo-skeletal functions of feet under the condition of standing upright at rest.

With a photoelastic method, contact pressure patterns between foot and the floor surface were recorded, occasionally for one minute. The aim of this study is to evaluate the development or maturity of postural control. As a clinical model to be tested, Down syndrome characterized by marked muscular hypotonicity was chosen for quantitative analysis. The following results were obtained; (1) the center of contact pressure is shifted significantly forward in Down syndrome, (2) the position tends to move forward on the left side in both normal and Down syndrome groups, and (3) there was no distinctive laterality of weight loading on either side. Flaccidity of ankle joint movements such as abnormal eversion was indicated by a special parameter, which was obtained for the first time by this method.

Infants with Down syndrome often present with a typical orofacial disorder, the features of which include hypotonicity of the perioral muscles, lips and chewing muscles, and a protruding tongue, later followed by active tongue protrusion, as well as problems with sucking, drooling, etc. This study presents the effects of Castillo-Morales' therapy with 67 Down syndrome children (average age at start of therapy 13.9 months), who wore the palatal plate intermittently for an average of 12.1 months. Significant positive results were obtained in spontaneous tongue position, upper and lower lip tonicity and position, mouth closure, drooling and sucking.

The association between Down's syndrome (DS) and joint hyperflexibility is well documented. However, objective information concerning developmental expectations for flexibility in DS children is lacking. This investigation used goniometric techniques to examine the changes in flexibility with growth and maturation in 30 DS children aged 5, 10 and 15 years and compared them with 30 normal controls. Flexibility declined consistently with age in the DS children and in the controls, and although the DS children were more flexible than their control counterparts at each age, the magnitude of change over the whole age range was parallel in both groups of children suggesting some similarity in mechanisms controlling the maturation of joint tissues. The greatest reduction in flexibility occurred in the hip and ankle joints, and in the elbow and knee hyperextension. A trend was evident for the largest reduction in measurements to occur between 5 and 10 years in the DS children compared with a consistent or later reduction in the controls. It is postulated that this may be attributable to the improvement in generalized muscular hypotonia expected during this age period, or to differences in the rate of maturation of joint structures in the early years, caused by the effects of the syndrome on the intrinsic mechanisms regulating the growth of joints.