Neuromuscular Diseases Affect Number Representation and Processing: An Exploratory Study

Spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) both are rare genetic neuromuscular diseases with progressive loss of motor ability. The neuromotor developmental course of those diseases is well documented. In contrast, there is only little evidence about characteristics of general and specific cognitive development. In both conditions the final motor outcome is characterized by an inability to move autonomously: children with SMA never accomplish independent motoric exploration of their environment, while children with DMD do but later lose this ability again. These profound differences in developmental pathways might affect cognitive development of SMA vs. DMD children, as cognition is shaped by individual motor experiences. DMD patients show impaired executive functions, working memory, and verbal IQ, whereas only motor ability seems to be impaired in SMA. Advanced cognitive capacity in SMA may serve as a compensatory mechanism for achieving in education, career progression, and social satisfaction. This study aimed to relate differences in basic numerical concepts and arithmetic achievement in SMA and DMD patients to differences in their motor development and resulting sensorimotor and environmental experiences. Horizontal and vertical spatial-numerical associations were explored in SMA/DMD children ranging between 6 and 12 years through the random number generation task. Furthermore, arithmetic skills as well as general cognitive ability were assessed. Groups differed in spatial number processing as well as in arithmetic and domain-general cognitive functions. Children with SMA showed no horizontal and even reversed vertical spatial-numerical associations. Children with DMD on the other hand revealed patterns in spatial numerical associations comparable to healthy developing children. From the embodied Cognition perspective, early sensorimotor experience does play a role in development of mental number representations. However, it remains open whether and how this becomes relevant for the acquisition of higher order cognitive and arithmetic skills.

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Maternal mild thyroid dysfunction and offspring cognitive and motor development from infancy to childhood: the Rhea mother–child cohort study in Crete, Greece

Journal of Epidemiology & Community Health ◽

10.1136/jech-2019-213309 ◽

2020 ◽

pp. jech-2019-213309

Author(s):

Mariza Kampouri ◽

Katerina Margetaki ◽

Katerina Koutra ◽

Andriani Kyriklaki ◽

Polyxeni Karakosta ◽

...

Keyword(s):

Cognitive Development ◽

Motor Development ◽

Thyroid Dysfunction ◽

Thyroid Autoimmunity ◽

Relative Risk Ratio ◽

Thyroid Peroxidase ◽

Adjusted Relative Risk ◽

Motor Ability ◽

Increased Risk ◽

Maternal Thyroid

BackgroundMaternal thyroid hormones’ supply is crucial for fetal neurodevelopment; however, the role of maternal mild thyroid dysfunction is not clear. We aimed to assess the association of maternal mild thyroid dysfunction with child neuropsychological development from infancy to early childhood.MethodsWe included 757 mother–child pairs from the prospective ‘Rhea’ cohort on Crete, Greece. Maternal thyroid functioning was assessed by quantitative analysis of serum thyroid-stimulating hormone, free thyroxine, thyroid peroxidase antibodies and thyroglobulin antibodies at early gestation (mean=14 weeks). Neuropsychological assessment was based on Bayley Scales of Infant Development (18 months of age), McCarthy Scales of Children’s Abilities (4 years of age), Raven’s Coloured Progressive Matrices, Trail Making Test and Finger Tapping Test (6 years of age).ResultsIn multivariate adjusted linear regression analyses, maternal hypothyroxinemia was associated with decreased verbal scores at 4 years and reduced motor speed at 6 years of age. Maternal thyroid autoimmunity was associated with decreased child perceptual and motor ability at 4 years of age. Four trajectories of longitudinal non-verbal cognitive development were identified and children exposed to maternal thyroid autoimmunity had increased risk for belonging to an adverse trajectory (‘low’: adjusted relative risk ratio (RRR) = 2.7 95% CI: (1.4, 5.2), ‘high-decreasing’: adjusted RRR = 2.2 95% CI: (1.2, 4.0), ‘low-increasing’: adjusted RRR = 1.8 95% CI: (1.0, 3.2)).ConclusionMaternal hypothyroxinemia is associated with reduced offspring verbal and motor ability. Maternal thyroid autoimmunity is associated with decreased offspring perceptual performance and motor ability and increased risk for adverse non-verbal cognitive development from infancy to childhood.

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Vertical spatial representation of numbers across two cultures

Psihologija ◽

10.2298/psi170917031p ◽

2019 ◽

Vol 52 (2) ◽

pp. 127-137

Author(s):

Achille Pasqualotto ◽

Maiko Uesaki ◽

Hiroshi Ashida

Keyword(s):

Strong Evidence ◽

Spatial Representation ◽

Random Number ◽

Random Number Generation ◽

Pivotal Role ◽

Numerical Representation ◽

Writing System ◽

Number Representation ◽

Generation Task ◽

Two Cultures

There is strong evidence that numbers are spatially represented. However, much of the research has been concerned with investigating number representation within the horizontal rather than the vertical dimension. It has been suggested that the organisation of the writing system, by rows or by columns, plays a pivotal role in shaping the mental number representation. We investigated the vertical number representation in British and Japanese participants, who were asked to randomly generate numbers after turning their heads up or down. Previous works showed that this method facilitated the access to the corresponding portions of the horizontal mental number representation. We found that neither group seemed to be affected by the up/ down head turns. These results are discussed in terms of cultural crossover, differences in the horizontal vs. vertical spatial and numerical representation, and sensitivity of the random number generation task.

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Cybernic treatment with wearable cyborg Hybrid Assistive Limb (HAL) improves ambulatory function in patients with slowly progressive rare neuromuscular diseases: a multicentre, randomised, controlled crossover trial for efficacy and safety (NCY-3001)

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-021-01928-9 ◽

2021 ◽

Vol 16 (1) ◽

Author(s):

Takashi Nakajima ◽

Yoshiyuki Sankai ◽

Shinjiro Takata ◽

Yoko Kobayashi ◽

Yoshihito Ando ◽

...

Keyword(s):

Crossover Trial ◽

Muscular Atrophy ◽

Neuromuscular Diseases ◽

Walk Test ◽

Efficacy And Safety ◽

Muscle Testing ◽

Ambulatory Ability ◽

Secondary Endpoints ◽

Randomised Controlled ◽

Hybrid Assistive Limb

Abstract Background Rare neuromuscular diseases such as spinal muscular atrophy, spinal bulbar muscular atrophy, muscular dystrophy, Charcot-Marie-Tooth disease, distal myopathy, sporadic inclusion body myositis, congenital myopathy, and amyotrophic lateral sclerosis lead to incurable amyotrophy and consequent loss of ambulation. Thus far, no therapeutic approaches have been successful in recovering the ambulatory ability. Thus, the aim of this trial was to evaluate the efficacy and safety of cybernic treatment with a wearable cyborg Hybrid Assistive Limb (HAL, Lower Limb Type) in improving the ambulatory function in those patients. Results We conducted an open-label, randomised, controlled crossover trial to test HAL at nine hospitals between March 6, 2013 and August 8, 2014. Eligible patients were older than 18 years and had a diagnosis of neuromuscular disease as specified above. They were unable to walk for 10 m independently and had neither respiratory failure nor rapid deterioration in gait. The primary endpoint was the distance passed during a two-minute walk test (2MWT). The secondary endpoints were walking speed, cadence, and step length during the 10-m walk test (10MWT), muscle strength by manual muscle testing (MMT), and a series of functional measures. Adverse events and failures/problems/errors with HAL were also evaluated. Thirty patients were randomly assigned to groups A or B, with each group of 15 receiving both treatments in a crossover design. The efficacy of a 40-min walking program performed nine times was compared between HAL plus a hoist and a hoist only. The final analysis included 13 and 11 patients in groups A and B, respectively. Cybernic treatment with HAL resulted in a 10.066% significantly improved distance in 2MWT (95% confidence interval, 0.667–19.464; p = 0.0369) compared with the hoist only treatment. Among the secondary endpoints, the total scores of MMT and cadence at 10MWT were the only ones that showed significant improvement. The only adverse effects were slight to mild myalgia, back pain, and contact skin troubles, which were easily remedied. Conclusions HAL is a new treatment device for walking exercise, proven to be more effective than the conventional method in patients with incurable neuromuscular diseases. Trial registration: JMACTR, JMA-IIA00156

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The role of visual experience for spatial numerical associations

Seeing and Perceiving ◽

10.1163/187847612x648486 ◽

2012 ◽

Vol 25 (0) ◽

pp. 222 ◽

Cited By ~ 1

Author(s):

Michael J. Proulx ◽

Achille Pasqualotto ◽

Shuichiro Taya

Keyword(s):

Visual Experience ◽

Opposite Effect ◽

Random Number Generation ◽

Number Line ◽

Mental Number Line ◽

Generation Task ◽

Congenitally Blind ◽

Left And Right ◽

The Right

The topographic representation of space interacts with the mental representation of number. Evidence for such number–space relations have been reported in both synaesthetic and non-synaesthetic participants. Thus far most studies have only examined related effects in sighted participants. For example, the mental number line increases in magnitude from left to right in sighted individuals (Loetscher et al., 2008, Curr. Biol.). What is unclear is whether this association arises from innate mechanisms or requires visual experience early in life to develop in this way. Here we investigated the role of visual experience for the left to right spatial numerical association using a random number generation task in congenitally blind, late blind, and blindfolded sighted participants. Participants orally generated numbers randomly whilst turning their head to the left and right. Sighted participants generated smaller numbers when they turned their head to the left than to the right, consistent with past results. In contrast, congenitally blind participants generated smaller numbers when they turned their head to the right than to the left, exhibiting the opposite effect. The results of the late blind participants showed an intermediate profile between that of the sighted and congenitally blind participants. Visual experience early in life is therefore necessary for the development of the spatial numerical association of the mental number line.

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Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases

International Journal of Molecular Sciences ◽

10.3390/ijms22116039 ◽

2021 ◽

Vol 22 (11) ◽

pp. 6039

Author(s):

Justine Meunier ◽

Rocio-Nur Villar-Quiles ◽

Isabelle Duband-Goulet ◽

Ana Ferreiro

Keyword(s):

Cell Cycle ◽

Striated Muscle ◽

Bone Fractures ◽

Muscular Atrophy ◽

Neuromuscular Diseases ◽

Muscle Disease ◽

Future Research ◽

Muscle Involvement ◽

Functional Studies ◽

Monogenic Disorders

Defects in transcriptional and cell cycle regulation have emerged as novel pathophysiological mechanisms in congenital neuromuscular disease with the recent identification of mutations in the TRIP4 and ASCC1 genes, encoding, respectively, ASC-1 and ASCC1, two subunits of the ASC-1 (Activating Signal Cointegrator-1) complex. This complex is a poorly known transcriptional coregulator involved in transcriptional, post-transcriptional or translational activities. Inherited defects in components of the ASC-1 complex have been associated with several autosomal recessive phenotypes, including severe and mild forms of striated muscle disease (congenital myopathy with or without myocardial involvement), but also cases diagnosed of motor neuron disease (spinal muscular atrophy). Additionally, antenatal bone fractures were present in the reported patients with ASCC1 mutations. Functional studies revealed that the ASC-1 subunit is a novel regulator of cell cycle, proliferation and growth in muscle and non-muscular cells. In this review, we summarize and discuss the available data on the clinical and histopathological phenotypes associated with inherited defects of the ASC-1 complex proteins, the known genotype–phenotype correlations, the ASC-1 pathophysiological role, the puzzling question of motoneuron versus primary muscle involvement and potential future research avenues, illustrating the study of rare monogenic disorders as an interesting model paradigm to understand major physiological processes.

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Motor Unit Number Estimation in Neuromuscular Disease

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ◽

10.1017/s0317167100008568 ◽

2008 ◽

Vol 35 (2) ◽

pp. 153-159 ◽

Cited By ~ 22

Author(s):

Omid Rashidipour ◽

K. Ming Chan

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Motor Unit ◽

Neuromuscular Disease ◽

Muscular Atrophy ◽

Neuromuscular Diseases ◽

Neuronal Loss ◽

Response To Treatment ◽

Motor Unit Number Estimation ◽

Electrophysiological Method ◽

Lateral Sclerosis

Motor unit number estimation (MUNE) is an electrophysiological method designed to quantify motor unit loss in target muscles of interest. Most of the techniques are noninvasive and are therefore well suited for longitudinal monitoring. In this brief review, we describe the more commonly used techniques and their applications in amyotrophic lateral sclerosis, poliomyelitis, spinal muscular atrophy and hereditary sensorimotor neuropathies. Findings in some of these studies offer important pathophysiological insights. Since conventional electrophysiologic methods are not sensible measures of motor neuronal loss, MUNE could play a potentially important role in the diagnosis, monitoring of disease progression and response to treatment in neuromuscular diseases in which motor unit loss is a major feature.

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Comparison of Two Scales for Assessing Motor Development in Infants with down's Syndrome

The Occupational Therapy Journal of Research ◽

10.1177/153944928300300403 ◽

1983 ◽

Vol 3 (4) ◽

pp. 213-221 ◽

Cited By ~ 4

Author(s):

Joan Snyder Lydic ◽

Margaret A. Short ◽

David L. Nelson

Keyword(s):

Motor Development ◽

Down's Syndrome ◽

Down’S Syndrome ◽

Motor Ability ◽

Before And After ◽

Partial Correlations ◽

Depth Study ◽

Movement Assessment ◽

Stability Results

The Peabody Developmental Scales (PDS) and the Movement Assessment of Infants (MAI) were examined for their abilities to detect subtle changes in motor development of infants with Down's syndrome Both assessments were administered to 10 infants before and after a 6-week period A t-test suggested that the MAI was sensitive to developmental changes in the subjects tested from initial test to follow-up. Similar testing using the PDS did not reveal significant differences in the scores, suggesting that the MAI was the more sensitive of the two instruments. When partial correlations were calculated for possible artifactual effects due to age, the MAI still demonstrated greater stability. Results indicate that, for infants with Down's syndrome, the MAI may be preferable to the PDS for detecting changes in motor ability over short periods. However, these results should be considered tentative until a more in-depth study is conducted using a larger number of subjects from a variety of clinical populations.

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Object Concept and Object Relations in Childhood Psychosis: A Pilot Study

Canadian Psychiatric Association Journal ◽

10.1177/070674377101600409 ◽

1971 ◽

Vol 16 (4) ◽

pp. 347-354 ◽

Cited By ~ 2

Author(s):

L. Gratton

Keyword(s):

New York ◽

Mental Retardation ◽

Cognitive Development ◽

Pilot Study ◽

Motor Development ◽

Day School ◽

Child Relationship ◽

Two Systems ◽

Early Infantile Autism ◽

Age Range

The two master theories of human development, the Freudian and Piagetan, have evolved in parallel fashion without ever meeting. The advent of ‘ego metapsychology’ brought the two systems closer together, to be finally correlated by Anthony, Wolff, et al. The role of the mother is primordial in both cognitive and psychoanalytic systems. As already shown experimentally by Gouin-Décarie the two systems are interconnected in that a failure or fixation in the libidinal development is accompanied by an ‘adherence’ in the cognitive sphere. The aim of this pilot study was to verify the hypothesis that any condition accompanied or caused by a severe disturbance in the mother-child relationship will result in severe mental retardation or arrest in cognitive development within the sensorio-motor stage. The sample was composed of twenty randomly selected children (age range: 3 to 9 years), divided into a psychotic sub-group and a non-psychotic one, the latter serving as control. These children were attending the Pride of Judea Day School in New York City. All had a complete psychiatric and psychological evaluation, plus a detailed developmental history, carried out independently of this research. The Piagetan Test of Sensorio-Motor development elaborated by Gouin-Décarie was administered to both groups. The results showed that an ‘adherence’ of cognitive development to the sensorio motor stage was positively correlated with Early Infantile Autism and Mental Retardation. In order to further clarify this correlation the subjects' early development in their first two years of life was scrutinized using a check list of autistic signs. A statistically highly significant correlation could then be established between the arrest of cognitive development in the sensorio motor stage and an autistic type of development within the first two years of life, irrespective of diagnosis. In view of these findings it seems pointless to apply interpretative psychotherapies to these children or to submit them to standard kindergarten techniques when they lack the very rudiments for abstract thinking.

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UPAYA PENINGKATAN KEMAMPUAN MOTORIK HALUS ANAK USIA 4-5 TAHUN MELALUI MEDIA BALOK BERGAMBAR DI TKIP ASSALAAM KOTA TASIKMALAYA

JURNAL PAUD AGAPEDIA ◽

10.17509/jpa.v3i1.26668 ◽

2020 ◽

Vol 3 (1) ◽

pp. 48-60

Author(s):

Yeni Hendayani ◽

Heri Yusuf Muslihin ◽

Taopik Rahman

Keyword(s):

Motor Skills ◽

Motor Development ◽

Fine Motor ◽

Fine Motor Skills ◽

Motor Ability ◽

Group A ◽

The Media ◽

Media Data ◽

City Group ◽

Implementation Stage

ABSTRACTThis research is motivated by difficulties in fine motor skills, problems that occur in group A in Kindergarten IP Assalaam Tasikmalaya City, there are still many children who are less in fine motor development especially in motion skills of both hands, fingers and skill to coordinate the speed or dexterity of hands with eye movements. This is suspected because the learning in the classroom is still monotonous and the teacher still has not used the media, especially for the fine motor development. The purpose of this research is improve the fine motor skills of children through Balok Bergambar media in group A age 4-5 year in kindergarten IP Assalaam City Tasikmalaya. Classroom Action Research (PTK) conducted in collaboration with teachers, implemented 3 cycles using the Kemmis and MC Taggart Model. The subjects of the research were children of A kindergarten IP Assalaam Tasikmalaya City group consisting of 18 people, as many as eight male and 10 female and one teacher as a partner teacher. The object of research is the fine motor ability of the child through Balok Bergambar media. Data collection techniques used observation and documentation, while data analysis techniques using descriptive qualitative. Each cycle consisting of four and stages: planning, implementation stage, observation stage, and reflection stage. The results of the research have shown that the use of Balok Bergambar media can improve the fine motor ability of the child. This is evidenced by the increase in the ability of teachers in planning daily learning, the ability of teachers in the process of implementation of learning by using Balok Bergambar media and the ability to fine motor children aged 4-5 years from each cycle. Can be concluded the Balok Bergambar media can improve the fine motor ability of children aged 4-5 years in kindergarten IP Assalaam Tasikmalaya City. ABSTRAKPenelitian ini dilatarbelakangi adanya kesulitan dalam kemampuan motorik halus, permasalahan yang terjadi pada kelompok A di TK IP Assalaam Kota Tasikmalaya, masih banyak anak yang kurang dalam perkembangan motorik halusnya khususnya dalam keterampilan gerak kedua tangan, keterampilan jari jemari dan keterampilan mengkoordinasikan kecepatan atau kecekatan tangan dengan gerakan mata. Hal ini diduga disebabkan karena pembelajaran di kelas masih monoton dan guru masih belum menggunakan media, khususnya untuk perkembangan motorik halusnya. Tujuan penelitian ini adalah untuk meningkatkan kemampuan motorik halus anak melalui media balok bergambar pada kelompok A usia 4-5 tahun di TKIP Assalaam Kota Tasikmalaya. Penelitian Tindakan Kelas (PTK) yang dilakukan bekerjasama dengan guru, dilaksanakan sebanyak 3 siklus dengan menggunakan model Kemmis dan Mc. Taggart. Subjek penelitian adalah anak kelompok A TKIP Assalaam Kota Tasikmalaya yang terdiri dari 18 orang yaitu sebanyak delapan orang laki-laki dan 10 orang perempuan dan satu orang guru sebagai guru mitra. Objek penelitian adalah kemampuan motorik halus anak melalui media balok bergambar. Teknik pengumpulan data menggunakan observasi dan dokmentasi, sedangkan teknik analisis data menggunakan deskriptif kualitatif. Setiap siklus terdiri dari empat tahap yaitu perencanaan, tahap pelaksanaan, tahap observasi, dan tahap refleksi. Hasil penelitian yang telah dilaksanakan menunjukkan bahwa penggunaan media balok bergambar dapat meningkatkan kemampuan motorik halus anak. Hal ini dibuktikan dengan adanya peningkatan kemampuan guru dalam merencanakan pembelajaran harian, kemampuan guru dalam proses pelaksanaan pembelajaran dengan menggunakan media balok bergambar dan kemampuan motork halus anak usia 4-5 tahun dari setiap siklusnya. Maka dapat disimpulkan media balok bergambar dapat meningkatkan kemampuan motorik halus anak usia 4-5 tahun di TKIP Assalaam Kota Tasikmalaya.

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KAPASITAS PERKEMBANGAN KEMAMPUAN MOTORIK PADA ANAK USIA TAMAN KANAK-KANAK

Jurnal Pesona Dasar ◽

10.24815/pear.v7i2.14756 ◽

2019 ◽

Vol 7 (2) ◽

pp. 26-37

Author(s):

Ahadin Ahadin

Keyword(s):

Motor Skills ◽

Motor Development ◽

The Body ◽

Power Balance ◽

Motor Behaviour ◽

Motor Ability ◽

Community Environment ◽

Child Interaction ◽

Individual Capacity ◽

Integrated Or

Motor ability is an individual capacity to develop the ability of the skills that are possessed in an effort to heighten or accelerate the mastery of a skill. Individual capacities that are motor capability consist of: speed (speed), agility, power, balance (balance), flexibility (flexibility), and coordination (coordination). Motor development is a change in motor behaviour that occurs because of maturity and child interaction with the environment. Maturity is a change that occurs in the body within a period of time. While the environment consists of: family, friends play, and community environment. The function of motor capability for children in kindergarten is to promote labor, facilitate, accelerate in the mastery of various motor skills studied. Motor skills are a child's ability to display or demonstrate a skill. Motor capability occurs or is acquired through an integrated or associated process along with an exercise or enhancement through experience. Motor capability will occur with a change from time to time relatively permanent in the capacity to showcase a skilled motor skill.

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