Motor Disability Research Articles

Therapeutic Effects of Geranium Oil in MPTP-Induced Parkinsonian Mouse Model.

Parkinson's disease (PD) is an incurable neurodegenerative disease characterized by motor and non-motor disabilities resulting from neuronal cell death in the substantia nigra and striatum. Microglial activation and oxidative stress are two of the primary mechanisms driving that neuronal death. Here, we evaluated the effects of geranium oil on 1-methyl-4-phenyl-1,2,3,6-tetra-hydropyridine (MPTP) mouse model for PD, on microglial activation, and oxidative stress. We demonstrate that oral treatment with geranium oil improved motor performance in this model. The therapeutic effects of geranium oil were observed as a significant increase in rotarod latency and distance among the mice treated with geranium oil, as compared to vehicle-treated MPTP mice. Geranium oil also prevented dopaminergic neuron death in the substantia nigra of the treated mice. These therapeutic effects can be partially attributed to the antioxidant and anti-inflammatory properties of geranium oil, which were observed as attenuated accumulation of reactive oxygen species and inhibition of the secretion of proinflammatory cytokines from geranium oil-treated activated microglial cells. A repeated-dose oral toxicity study showed that geranium oil is not toxic to mice. In light of that finding and since geranium oil is defined by the FDA as generally recognized as safe (GRAS), we do not foresee any toxicity problems in the future and suggest that geranium oil may be a safe and effective oral treatment for PD. Since the MPTP model is only one of the preclinical models for PD, further studies are needed to confirm that geranium oil can be used to prevent or treat PD.

The effects of dexamethasone and erythropoietin on mice sciatic nerve crush injury: histopathologic and functional outcomes

Peripheral neuropathies are one of the major causes of motor and sensory disability. The multitude of nerve injuries and associated comorbidities provides a strong impetus to find a drug that potentiate or accelerate axonal regeneration. Systemic drug delivery has been a promising strategy in this regard. This study aimed to evaluate dexamethasone and erythropoietin effects on sciatic nerve regeneration. Twenty-three mice were randomly assigned to sham, control, dexamethasone, erythropoietin, and dexamethasone + erythropoietin groups. The left sciatic nerve was crushed using mosquito hemostatic forceps. Medications were administered once daily for 28 days. The sham group received neither crush injury nor medication. Histopathologic and walking track analyses were performed. Medical therapy influence on functional recovery was observed in as soon as 14 days. Although functional recovery was superior in the dexamethasone + erythropoietin group, a complete return to near-normal function was seen after 28 days in all of the groups. Dexamethasone yielded superior SFI values compared to the erythropoietin on day 14, although this was not statistically significant (p = 0.534). Histopathologically, recovery of average axonal number up to 75% normal nerve and significant decline of axonal swelling was observed in the erythropoietin and dexamethasone + erythropoietin groups, which were statistically significant compared to the dexamethasone group (p = 0.008). Marked immunoreactivity to Glial fibrillary acidic protein (GFAP) was present in the dexamethasone group. Furthermore, immunoreactivity to S-100 protein was observed in regenerated nerves in all groups. Present data provide insights into the neurotrophic effects of dexamethasone and erythropoietin on sciatic crush; however, further investigation is required to justify the clinical application of these agents.

A new insight into the role of pericytes in ischemic stroke.

The functional structure of the blood-brain barrier (BBB) deteriorates after stroke by developing diffuse microvascular and neurovascular dysfunction and loss of white matter integrity. This causes nervous tissue injury and causes sensory and motor disabilities in stroke patients. Improving the integrity of the BBB and neurovascular remodeling after stroke can promote post-stroke injury conditions. Pericytes are contractile cells abundant in the BBB and sandwiched between astrocytes and endothelial cells of the microvessels. Stroke could lead to the degeneration of pericytes in the BBB. However, recent evidence shows that promoting pericytes enhances BBB integrity and neurovascular remodeling. Furthermore, pericytes achieve multipotent properties under hypoxic conditions, allowing them to transdifferentiate into the brain resident cells such as microglia. Microglia regulate immunity and inflammatory response after stroke. The current review studies recent findings in the intervening mechanisms underlying the regulatory effect of pericytes in BBB recovery after stroke.

Temporal serum metabolomic and lipidomic analyses distinguish patients with access-related hand disability following arteriovenous fistula creation

For end-stage kidney disease (ESKD) patients, hemodialysis requires durable vascular access which is often surgically created using an arteriovenous fistula (AVF). However, some ESKD patients that undergo AVF placement develop access-related hand dysfunction (ARHD) through unknown mechanisms. In this study, we sought to determine if changes in the serum metabolome could distinguish ESKD patients that develop ARHD from those that have normal hand function following AVF creation. Forty-five ESKD patients that underwent first-time AVF creation were included in this study. Blood samples were obtained pre-operatively and 6-weeks post-operatively and metabolites were extracted and analyzed using nuclear magnetic resonance spectroscopy. Patients underwent thorough examination of hand function at both timepoints using the following assessments: grip strength manometry, dexterity, sensation, motor and sensory nerve conduction testing, hemodynamics, and the Disabilities of the Arm, Shoulder, and Hand (DASH) questionnaire. Nineteen of the forty-five patients displayed overt weakness using grip strength manometry (P < 0.0001). Unfortunately, the serum metabolome was indistinguishable between patients with and without weakness following AVF surgery. However, a significant correlation was found between the change in tryptophan levels and the change in grip strength suggesting a possible role of tryptophan-derived uremic metabolites in post-AVF hand-associated weakness. Compared to grip strength, changes in dexterity and sensation were smaller than those observed in grip strength, however, post-operative decreases in phenylalanine, glycine, and alanine were unique to patients that developed signs of motor or sensory disability following AVF creation.

Caffeine versus other methylxanthines for the prevention and treatment of apnea in preterm infants.

Caffeine versus other methylxanthines for the prevention and treatment of apnea in preterm infants.

Minimal amount of exercise prevents incident dementia in cognitively normal older adults with osteoarthritis: a retrospective longitudinal follow-up study

Robust evidence suggests that regular exercise, including walking more than 6000 steps, is effective for preventing dementia; however, such activity is less feasible in older people with osteoarthritis (OA) or other motor disabilities. Therefore, we aimed to test whether the minimal amount of exercise (MAE) could help prevent dementia in older adults with OA. A retrospective longitudinal study was performed and a non-demented cohort (≥ 50-years-old) of 242 people (155 [64.0%] non-converters and 87 [36.0%] converters) from three centers in Taiwan was analyzed with a mean follow-up of 3.1 (range 0.3–5.9) and 2.9 (range 0.5–6.0) years, respectively. MAE was defined as walking for approximately 15–30 min or 1500–3000 steps. Rate of MAE (0, 1–2, or ≥ 3) within one week were defined as MAE-no, MAE-weekly, or MAE-daily, respectively. The incidence rates of dementia were compared between groups. Multivariate logistic regression and Cox proportional hazards analyses were used to study the influence of MAE on dementia occurrence. Age, education, sex, activities of daily living, neuropsychiatric symptoms, cognition, multiple vascular risk factors, and related medications were adjusted. Compared to the MAE-no group, the odds ratios for the incidents of dementia were 0.48 and 0.19 in the MAE-weekly and MAE-daily groups, respectively. In addition, older age, poorer cognition, poorer ADL performance, and congestive heart failure increased the incidence of dementia. Daily and weekly MAE prevented dementia in older adults with OA. As such, an informative public health policy may help promote adequate exercise in at-risk groups.

Serious Game for Fine Motor Control Rehabilitation for Children With Epileptic Encephalopathy: Development and Usability Study.

Epileptic encephalopathy (EE) is defined as the presence of frequent epileptiform activity that adversely impacts development, typically causing the slowing or regression of developmental skills, and is usually associated with frequent seizures. One of the main disturbances in EE is in the coordination of the upper extremities and hands. Traditional rehabilitation for this type of pathology focuses on the alleviation of gross or fine motor disability. In the last few years, the use of low-cost devices together with customized serious games has shown improvements in motor disorders and enrichments in activities of daily living. This study aims to explore the feasibility of a new serious game for improving fine motor control in children with EE. The participants were 4 children with EE (male: n=2, 50%; female: n=2, 50%) who were classified as belonging to level 1 in the Gross Motor Classification System. The children were tested over 10 sessions during the intervention period (before and after treatment). The clinical tests performed were the Bruininks-Oseretsky Test of Motor Proficiency, 2nd edition and Pittsburgh Rehabilitation Participation Scale. The subscales of the Bruininks-Oseretsky Test of Motor Proficiency, 2nd edition were fine motor precision, fine motor integration, manual dexterity, and upper-limb coordination. At the end of the first session, we used the User Satisfaction Evaluation Questionnaire to analyze user satisfaction. The significance outcomes for a Student t test (1-tailed) were as follows: P=.009 for fine motor precision, P=.002 for fine motor integration, P=.56 for manual dexterity, and P=.99 for upper-limb coordination. The participation rate as measured using the Pittsburgh Rehabilitation Participation Scale was between good and very good, which means that, based on the therapist's evaluation, interest, independence, and motivation were achieved by each participant. The mean User Satisfaction Evaluation Questionnaire score was close to 30, which is the maximum value. The results support the use of the proposed serious game as a complement in therapeutic sessions during the rehabilitation processes for children with EE. Significant improvements in fine motor control and activities of daily living revealed that the proposed serious game is beneficial for fine motor disorders of this pathology.

A rehabilitation robot control framework with adaptation of training tasks and robotic assistance.

Robot-assisted rehabilitation has exhibited great potential to enhance the motor function of physically and neurologically impaired patients. State-of-the-art control strategies usually allow the rehabilitation robot to track the training task trajectory along with the impaired limb, and the robotic motion can be regulated through physical human-robot interaction for comfortable support and appropriate assistance level. However, it is hardly possible, especially for patients with severe motor disabilities, to continuously exert force to guide the robot to complete the prescribed training task. Conversely, reduced task difficulty cannot facilitate stimulating patients' potential movement capabilities. Moreover, challenging more difficult tasks with minimal robotic assistance is usually ignored when subjects show improved performance. In this paper, a control framework is proposed to simultaneously adjust both the training task and robotic assistance according to the subjects' performance, which can be estimated from the users' electromyography signals. Concretely, a trajectory deformation algorithm is developed to generate smooth and compliant task motion while responding to pHRI. An assist-as-needed (ANN) controller along with a feedback gain modification algorithm is designed to promote patients' active participation according to individual performance variance on completing the training task. The proposed control framework is validated using a lower extremity rehabilitation robot through experiments. The experimental results demonstrate that the control scheme can optimize the robotic assistance to complete the subject-adaptation training task with high efficiency.

Rehabilitation problems of people with motor disabilities at Babylon center for rehabilitation of the disabled

Abstract Background: The provision of physical, psychological, and social rehabilitation becomes an important process for people with disabilities. Objectives: This study aimed to assess the degree of rehabilitation problems from caregiver’s perspective at Babylon Center for Rehabilitation of the Disabled. Materials and Methods: A descriptive cross-sectional study conducted from the period from March 7th to May 4th, 2023. The study sample, consisted of 117 caregivers, is selected according to non-probability sampling approach. The validity of the questionnaire was verified by experts and its reliability was verified through a pilot study. Data were collected through the self-report techniques and analyzed by applying descriptive and inferential statistical analysis. Results: The results indicate that the average age of the respondents was 42.15 ± SD = 4.39) years; they were mostly male respondents (79.5%), the Diploma graduated (57.3%), and less than 5 years experienced (59.8%). The degree of rehabilitation problems of people with motor disabilities was high in physical and psychological, and average in social problems. There is a negative correlation between rehabilitation problems and different genders, educational levels, and years of experience for caregivers. Conclusions: The study concludes that rehabilitation problems in terms of physical and psychological problems are very significant and are influenced by the professional characteristics of caregivers such as gender, educational level, and experience. It is recommended that the importance of educating and training various rehabilitation care providers about the nature of disability and ways to deal with it, especially for the physically disabled is highly recommended.

Development of Flash Card Media to Improve Expressive Language Skills in Children with Motor Impediments

The problems of children with motor disabilities who experience expressive language difficulties need to get the right solution so that these difficulties can be overcome and get learning services that suit their abilities and needs. Based on these problems the researcher developed Flash Card media which has a very important role to make it easier for children to perceive something. One of the difficulties in learning to read technically is because it is difficult to think abstractly, so the teacher can work around this by using media that is in accordance with the goals and material being taught. The way to overcome these problems is to develop learning media that are suitable for children's abilities. Media is needed to make it easier for children with motor impairments to learn. The method used is a descriptive qualitative approach.

Sexual dysfunction in multiple sclerosis: The impact of different MSISQ-19 cut-offs on prevalence and associated risk factors.

Although multiple sclerosis (MS) Intimacy and Sexuality Questionnaire-19 (MSISQ-19) is a widely applied tool, no unique definition of sexual dysfunction (SD) based on its score exists. To explore the impact of different MSISQ-19 cut-offs on SD prevalence and associated risk factors, providing relevant information for its application in research and clinical settings. After defining SD according to two different MSISQ-19 cut-offs in 1155 people with MS (pwMS), we evaluated SD prevalence and association with sociodemographic and clinical features, mood status and disability via logistic regression. Depending on the chosen cut-off, 45% to 54% of pwMS reported SD. SD defined as MSISQ-19 score >30 was predicted by age (OR=1.01, p=0.047), cognition (OR=0.96, p=0.004) and anxiety (OR=1.03, p=0.019). SD defined as a score >3 on any MSISQ-19 item was predicted by motor disability (OR=1.12, p=0.003) and cognition (OR= 0.96, p=0.002). Applying different MSISQ-19 cut-offs influences both the estimated prevalence and the identification of risk factors for SD, a finding that should be considered during study planning and data interpretation. Preserved cognition exerts a protective effect towards SD regardless from the specific study setting, representing a key point for the implementation of preventive and therapeutic strategies.

Enhanced Nanoelectronic Detection and Classification of Motor Imagery Electroencephalogram Signal Using a Hybrid Framework

Motor imagery-based electroencephalogram (MI-EEG) signal classification plays a vital role in the development of brain-computer interfaces (BCIs), particularly in providing assistance to individuals with motor disabilities. In this study, we introduce an innovative and optimized hybrid framework designed for the robust classification of MI-EEG signals. Our approach combines the power of a Deep Convolutional Neural Network (DCRNN) with the efficiency of the Ant Lion Optimization (ALO) algorithm. This framework consists of four key phases: data acquisition, pre-processing, feature engineering, and classification. To enhance the signal quality, our work incorporates adaptive filtering and independent component analysis (ICA) during the pre-processing phase. Feature extraction is carried out using a deep autoencoder. For classification, we employ the DCRNN, and further enhance its performance with the ALO algorithm to optimize training and classification processes. The study is implemented in MATLAB and evaluated using the PhysioNet dataset. Experimental results demonstrate the effectiveness of our proposed method, achieving an impressive accuracy of 99.32%, a precision of 99.41%, a recall of 99.29%, and an f-measure of 99.32%. These results surpass the performance of existing classification strategies, highlighting the potential of our hybrid framework in MI-EEG signal classification for various BCI applications.

PSYCHOLOGICAL TRAUMA, LIMINALITY, AND RESILIENCE IN PARAPLEGIC INDIVIDUALS: EXPLORING A SHIFTING IDENTITY CLINICAL AND PROJECTIVE STUDY

The study focuses on the psychodynamic approach to the psychological consequences of acquired motor disabilities in paraplegic individuals following a traffic accident. Emphasizing the identity issues faced by paraplegic individuals,the author, through clinical and projective research, delvedinto the manifestations of liminality experienced by a young woman transitioning to her new reality and its implications on identity concerns. Liminality, a concept borrowed from the French anthropologist Arnold Van Gennep in the context of cultural rituals and social transitions, refers in a broader sense to the process of transitioning and adapting to life changes, including those that may arise when an individual acquires a motor disability. It refers to a transitional state where a person finds themselves between two states or positions, often characterized by uncertainty, confusion, and exploration. It's a period of breaking away from previous identity and life, and an exploration of new ways of being and positioning oneself in the world. The author discusses adaptive strategies and resilience mechanisms used to overcome these identity challenges and reconcile with a new sense of self, a new post-traumatic identity

Dependency and associated factors among elderly in central Kerala

Background: Globally the proportion of elderly has been increasing and physical dependency is one of major problem faced by elderly. Physical dependency will affect the quality of life. Despite this, very limited number of studies were done to assess the dependency among elderly. Aim was to estimate the prevalence of dependency and to determine the association between selected factors and dependency among elderly &gt;60 years. Methods: A cross-sectional study was conducted among 352 elderly in Athirampuzha Panchayat using simple random sampling. A semi-structured interview schedule using basic activities of daily living scale-BADL (Katz scale) was used. Data was coded and entered in Microsoft Excel and analysed using IBM SPSS software version 22. Results: The mean age of participants was 71.68 years with a standard deviation of 8.457 years and the prevalence of dependency was found to be 30.7%. Univariate analysis results revealed that age (&gt;85 years), occupation, living arrangement, presence of aphasia, hearing impairment, visual disturbances, locomotor disability, presence of comorbidity, onset of comorbidity and comorbid conditions like diabetes mellitus, coronary artery disease and chronic arthritis were found to have significant association with dependency. Binary logistic regression results revealed that factors like age group (&gt;85 years), presence of hearing impairment, loco motor disability, onset of comorbidity, presence of diabetes mellitus and coronary artery disease were found to be independent predictors of dependency. Conclusions: Since dependency increases with age physical dependency is to be assessed periodically to achieve healthy ageing.

Lifetime and Acute Stress Predict Functional Outcomes Following Stroke: Findings From the Longitudinal STRONG Study.

Stroke is a sudden-onset, uncontrollable event; stroke-related stress may impede rehabilitation and recovery. Lifetime stress may sensitize patients to experiencing greater stroke-related stress and indirectly affect outcomes. We examine lifetime stress as predictor of poststroke acute stress and examine lifetime and acute stress as predictors of 3- and 12-month functional status. We also compare acute stress and baseline National Institutes of Health Stroke Scale as predictors of poststroke functional status. Between 2016 and 2020 the STRONG Study (Stroke, Stress, Rehabilitation, and Genetics) enrolled adults with new radiologically confirmed stroke 2 to 10 days poststroke onset at 28 acute care US hospitals. Participants were interviewed 3 times: acute admission (acute stress; Acute Stress Disorder Interview), 3 months (Fugl-Meyer Upper Extremity motor impairment [Fugl-Meyer Upper Arm Assessment; N=431], modified Rankin Scale [3 months; N=542], Stroke Impact Scale-Activities of Daily Living [3 months; N=511], Lifetime Stress Exposure Inventory), and 12 months (modified Rankin Scale, N=533; Stroke Impact Scale 3.0 Activities of Daily Living; N=485; Telephone Montreal Cognitive Assessment; N=484) poststroke. Structural equation models examined whether acute stress predicted 3- and 12-month functional outcomes, and mediated an association between lifetime stress and outcomes controlling for demographics and initial National Institutes of Health Stroke Scale. Standardized betas are reported. Sample (N=763) was 19 to 95 years old (mean=63; SD=14.9); 448 (58.7%) were male. Acute stress scores ranged from 0 to 14 (mean, 3.52 [95% CI, 3.31-3.73]). Controlling for age, gender, baseline National Institutes of Health Stroke Scale, and race and ethnicity, higher lifetime stress predicted higher acute stress (β=0.18, P<0.001), which predicted lower 3-month Fugl-Meyer Upper Arm Assessment scores (β=-0.19, P<0.001), lower Stroke Impact Scale 3.0 Activities of Daily Living scores at 3 months (β=-0.21, P<0.001) and 12 months (β=-0.21, P<0.001), higher modified Rankin Scale scores at 3 months (β=0.23, P<0.001) and 12 months (β=0.22, P<0.001), and lower 12-month Telephone Montreal Cognitive Assessment scores (β=-0.20, P<0.001). Acute stress predicted 12-month tMoCA (χ2[1]=5.29, P=0.022) more strongly, 3-month and 12-month modified Rankin Scale and SIS scores as strongly (all Ps>0.18), but Fugl-Meyer scores (χ2[1]=7.01, P=0.008) less strongly than baseline National Institutes of Health Stroke Scale. Lifetime stress/trauma is associated with more poststroke acute stress, which is associated with greater motor and cognitive impairment and disability 3 and 12 months poststroke. Poststroke interventions for acute stress may help mitigate stroke-related disability.

Quelles installations et appareillages pour les jeunes enfants en situation de handicap moteur sévère ? Pour quels objectifs ? Avec quel partenariat ?

The multidisciplinary therapeutic and educational team at the Ramdam Inclusive child care centre welcomes 30% of children with cerebral palsy among able-bodied children in the neighbourhood. The facilities of these young children with severe motor disabilities are essential they aim to preserve their orthopedic capital, to avoid choking spells, and to optimize their functional possibilities (motor, visual, communicational and relational) in their environment, at home as well as at their child care centre. They thus participate in their early social inclusion. From the multifactorial assessment of children's disorders and capacities, their occupations and their environment, to the co-construction of relevant objectives, partnership with the different actors is essential. We will emphasize the importance of this transdisciplinary work (and more specifically between the occupational therapist, the physiotherapist and the orthoprothesist, in close partnership with families and doctors), from the first “foam homemade installations” by the occupational therapist in the Ramdam child-care centre, to the orthopedic equipments made by the orthoprothesist. We will illustrate our constructive approach with some clinical vignettes of young children with severe motor disabilities, with the gradual introduction of facilities depending on the child's evolution, the parents’ requests and their progress in discovering their “different” child, proposals from the multidisciplinary team, while taking into account the specific and personalized goals for each child.

Assessing the reliability and validity of a health-related quality of life instrument, CPADULT, in a Dutch sample of adults with severe disabilities who are non-ambulatory.

A measure to provide insight regarding health-related quality of life of adults with severe motor and intellectual disabilities was lacking. For this reason, the CPADULT was developed. This measure includes domains relating to an individual's physical, mental, and social functioning. The purpose of this study was to assess the psychometric characteristics of the CPADULT. Caregivers (n = 47; 77% female, 23% male) of individuals with severe disabilities who are non-ambulatory completed the questionnaire. Internal consistency, test-retest reliability and construct validity were analysed. Internal consistency was adequate with Cronbach's alpha values from 0.75 to 0.95. Test-retest reliability was good, as intraclass correlation coefficient of the total score was 0.84 (domains: 0.61-0.89). Construct validity was confirmed with significant differences between subgroups of motor or intellectual abilities. The CPADULT has sufficient reliability and validity as a proxy measure of health-related quality of life for adults with severe disabilities who are non-ambulatory.

Co-designing an interactive artificial intelligent system with post-stroke patients and caregivers to augment the lost abilities and improve their quality of life: a human-centric approach.

The motor disability due to stroke compromises the autonomy of patients and caregivers. To support autonomy and other personal and social needs, trustworthy, multifunctional, adaptive, and interactive assistive devices represent optimal solutions. To fulfill this aim, an artificial intelligence system named MAIA would aim to interpret users' intentions and translate them into actions performed by assistive devices. Analyzing their perspectives is essential to develop the MAIA system operating in harmony with patients' and caregivers' needs as much as possible. Post-stroke patients and caregivers were interviewed to explore the impact of motor disability on their lives, previous experiences with assistive technologies, opinions, and attitudes about MAIA and their needs. Interview transcripts were analyzed using inductive thematic analysis. Sixteen interviews were conducted with 12 post-stroke patients and four caregivers. Three themes emerged: (1) Needs to be satisfied, (2) MAIA technology acceptance, and (3) Perceived trustfulness. Overall, patients are seeking rehabilitative technology, contrary to caregivers needing assistive technology to help them daily. An easy-to-use and ergonomic technology is preferable. However, a few participants trust a system based on artificial intelligence. An interactive artificial intelligence technology could help post-stroke patients and their caregivers to restore motor autonomy. The insights from participants to develop the system depends on their motor ability and the role of patients or caregiver. Although technology grows exponentially, more efforts are needed to strengthen people's trust in advanced technology.

Glutaric Acidemia Type 1: Diagnosis, Clinical features, and Outcome in a Portuguese Cohort.

Glutaric acidemia type 1 (GA1) is a rare autosomal recessive disorder characterized by a deficiency of glutaryl-CoA dehydrogenase, resulting in the accumulation of glutaric acid (GA), 3-hydroxyglutaric acid, and glutarylcarnitine, especially in the brain. GA1-affected children are clinically characterized by macrocephaly. Neurological abnormalities usually appear between 6 and 18 months of age, often triggered by a catabolic event. On the other hand, several biochemically affected individuals may remain asymptomatic or experience an insidious onset of mild neurological abnormalities. Retrospective study of GA1 patients followed at a Portuguese Hereditary Metabolic Disease Center, to characterize the phenotypic and genotypic variations associated with GA1. Therefore, we analyzed the clinical, neuroradiological, biochemical, and genetic information from 14 patients. 14 patients (four months-27 years old) were identified in the last 26 years, 9 were male, 1 was from a consanguineous family. 11 were diagnosed by newborn screening (NBS), and 3 identified following clinical symptoms (later diagnosed, LD). There were 3 phenotypic presentations: 6 asymptomatic, 3 with a motor disability after encephalopathic crisis (EC), and 5 with insidious onset. Acute EC occurred in 1/3 of the LD patients and in 2/11 NBS-identified patients. About urinary GA concentrations: 5 were low excretors (LE), 9 were high excretors (HE). All LE showed symptoms, and 2 had EC. Concerning HE, 3 showed symptoms and 1 had EC. GCDH analysis showed: 6 compound heterozygotes and 8 homozygotes. most frequent variant was c.1204C>T (p.R402W). All of them received appropriate therapy from the time of diagnosis, with a mean age of 23.3 months in LD patients and 13.3 days in NBS-identified patients. The outcomes were different between the two groups: all the LD patients presented motor dysfunction however in the NBS-identified patients only 5 developed this symptom. Patients identified by NBS had better outcomes showing that NBS enables an early diagnosis, and treatment, and consequently improves the clinical outcomes for these patients. No correlation was observed with clinical phenotype between LE and HE, as both groups can suffer the most severe neurological manifestations. These conclusions are in agreement with previous cohorts described in the literature.

Infant feeding method and special educational need in 191,745 Scottish schoolchildren: A national, population cohort study

BackgroundInfant breastfeeding has been associated with reduced incidence of childhood physical and mental health problems. This study investigated relationships between infant feeding methods and the risk of Special Educational Need (SEN).&#x0D; MethodsA retrospective population cohort of schoolchildren in Scotland was constructed by linking together health (maternity, birth, and health visitor records) and education (annual school pupil census) databases. Inclusion was restricted to singleton children, born in Scotland from 2004 onwards with available breastfeeding data and who attended local authority mainstream or special schools between 2009 and 2013. Generalised estimating equation models with a binomial distribution and logit link function investigated associations between infant feeding method at 6–8 weeks and any-cause and cause-specific SEN, adjusting for sociodemographic and maternity factors.&#x0D; FindingsOf 191 745 children meeting inclusion criteria, 126 907 (66·2%) were formula-fed, 48 473 (25·3%) exclusively breastfed, and 16 365 (8·5%) mixed fed. Overall, 23 141 (12·1%) children required SEN. Compared with formula feeding, mixed feeding and exclusive breastfeeding were associated with decreased any-cause SEN (OR 0·90, 95% CI 0·84–0·95; and 0·78, 0·75–0·82), and SEN attributed to learning disabilities (0·75, 0·65–0·87; and 0·66, 0·59–0·74), and learning difficulties (0·85, 0·77–0·94; and 0·75, 0·70–0·81). Compared with formula feeding, exclusively breastfed children had less communication problems (0·81, 0·74–0·88), social-emotional-behavioural difficulties (0·77, 0·70–0·84), sensory impairments (0·79, 0·65–0·95), physical motor disabilities (0·78, 0·66–0·91), and physical health conditions (0·74, 0·63–0·87). Feeding method was not significantly associated with mental health conditions or autism.&#x0D; InterpretationMany women struggle to exclusively breastfeed for the full 6 months recommended by WHO; however, this study provides evidence that a shorter duration of nonexclusive breastfeeding could nonetheless be beneficial with regard to the development of SEN.