Normal Motor Development Research Articles

The effects of digital physical exercise videos on the locomotor skill learning of pre-school children

ABSTRACTFundamental movement skills acquired during pre-school years provide the basis of normal motor development, positive self-image, self-perceived sports competencies in the adolescence. An instructional approach supported with visual materials may improve learning in pre-school children. The purpose of this study was to examine the effects of digital physical exercise videos on pre-school children's locomotor skill learning. A total of 906 children (662 Turkish and 244 Bulgarian), participated in the study as intervention (n = 442) and control (n = 464) groups. Each motor skill program consisted of video based 15-minute physical exercise for eight-weeks. Ulrich’s Test of Gross Motor Development was used for the assessment of fundamental motor skill performance at the beginning of the study as pre-test and at the end of the eight-week digital visual supported locomotor movement program as posttest. Two separate 2 × 2 (Group × Time) ANOVAs with repeated measures were used to analyze the improvement in locomotor skills performances of intervention and control groups. Results indicated significant Group × Time interactions for the locomotor sub-scale (p < 0.05). The intervention group showed a statistically significant improvement in locomotor skills, whereas control group did not show any significant change. The result provide evidence that locomotor motor skill performance may be improved via digital materials focused on locomotor skill development.

Video Pijat Bayi sebagai Media Peningkatan Keterampilan Ibu dalam Merangsang Perkembangan Motorik Bayi

Pijat bayi sangat berpengaruh positif bagi proses tumbuh kembang bayi. Jenis penelitian ini adalah Quasi eksperimental dengan desain pretest-posttest contol group design. Lokasi penelitian adalah Puskesmas Mokoau Kota Kendari. Populasi adalah bayi usia 3 - 9 bulan. Teknik sampling menggunakan teknik Quota dan Accidental sampling. Hasil penelitian menunjukkan bahwa secara deskriptif setelah diberikan video pijat bayi mayoritas ibu bayi yakni 66,67% ibu bayi terampil melakukan pijat bayi. Dan setelah diberikan pemijatan mayoritas bayi yakni 93,33% bayi memiliki perkembangan motorik yang normal. Secara inferensial diketahui bahwa ada perbedaan yang signifikan keterampilan pijat ibu bayi kelompok perlakuan dan kelompok kontrol dengan nilai p-value = 0,001 &lt; α = 0,05 dengan nilai t –hitung = 6,162. demikian pula bahwa ada perbedaan yang signifikan perkembangan motorik bayi pada kelompok perlakuan yang diberikan pijatan dan kelompok kontrol tanpa diberikan pijatan dengan nilai p-value = 0,031 &lt; α = 0,05 dengan nilai t –hitung = 2,269. Dengan demikian dapat disimpulkan bahwa pemberian video pijat bayi efektif meningkatkan keterampilan pijat ibu bayi dan pemberian pijat bayi efektif meningkatkan perkembangan motorik bayi usia 3 – 9 bulan.

PENERAPAN TERAPI BERMAIN MENGAMBAR DEKORATIF TERHADAP PERKEMBANGAN MOTORIK HALUS ANAK USIA 4-5 TAHUN DI WILAYAH BINAAN PUSKESMAS ROWOSARI SEMARANG

Fine motor is the child's ability in relation to physical skills involving small muscles, eye, and hand coordination. Decorative drawing is one of the methods that is used to improve children's fine motor skills by decorating images on paper that involve nerve muscle elements, the brain, and the ability of the child's fingers. The purpose of the study is to apply decorative drawing therapy towards the fine motor development of children aged 4-5 years in the region of Puskesmas Rowosari Semarang. This study belongs to descriptive case studies. The subject of this case study used two respondents who had normal fine motor development. Data were collected by observation and measured by Denver II sheet before and after therapy. The results of the case study were found in subject I with normal fine motor development of 70% increasing to a high of 78%, while in subject II with normal fine motor development 73% increased to high by 82%. It is suggested to Puskesmas Rowosari Semarang to use decorative drawings to improve children's fine motor skills as playing therapy in toddler posyandu activities.

MR-MORPHOMETRY AND DTI IN ASSESSING CHANGES OF CORPUS CALLOSUM IN CHILDREN WITH SPASTIC DIPLEGIA

The aim of the study was to compare the volumes according to MR morphometry and diffusion values according to diffusion-tensor MRI (DT-MRI) of the corpus callosum in children with spastic diplegia. Methods: the main group consisted of 12 children aged from 1 year 8 months to 4 years 3 months, the comparison group — 5 children with normal motor development, who did not have motor impairments, at the age from 1 year and 3 months up to 3 years 8 months. All patients underwent MR-morphometry, DTI. A comparison was made between the volumes and diffusion values of the corpus callosum between groups. Results: Significant differences were found (p&lt;0,05) in the volume of the genu, splenium and the middle third of the trunk of the corpus callosum. Significant differences (p&lt;0,05) of diffusion values in the middle and posterior third of the trunk of the corpus callosum were also revealed. The data obtained demonstrate the diffuse nature of pathological changes in the corpus callosum in children with spastic diplegia.

Vestibular and radiological evaluation of hearing impaired children with delayed Motor development

Background: Combined hearing and vestibular loss in children pose potentially significant problems. Children and infants with vestibular problems are faced with motor problems that could limit their normal development.Objectives: the aim of the study is to assess the relationship between the vestibular disorders and the delayed motor development in hearing impaired children as well as to assess the integrity of the vestibular system through clinical testing and radiological imaging in those children with delayed motor development.Methods: Thirty hearing impaired children with history of delayed motor milestones, and a control group of 10 hearing impaired children with normal motor development were included with variable degree of hearing loss. Each child was subjected to careful history taking, general examination, otoscopic examination, motor and balance questionnaires were answered by the parents or caregivers, audiological evaluation either through conditioned play audiometry or conventional audiometry, speech audiometry and Immittancemetry. Vestibular evaluation through cVEMP and caloric tests and finally the radiological studies through CT and MRI of the petrous bone.Results: There were variable degrees of hearing loss among both groups. In the control group (10 HI children, 20 ears), 18 ears (90%) had VEMP response, while two ears (10%) had absent VEMP, while in the study group (30 HI children, 60 ears), 48 ears (80%) had VEMP response, while 12 ears (20%) had absent VEMP. All children in the control group had normal caloric response, while in the study group, 23 children (77%) had normal response, and seven children (23%) had abnormal caloric response, 4 children had bilateral weakness and 3 had unilateral weakness. CT and MRI study of petrous bone was done for the control group and revealed normal radiology, while in the study group, 21 children had normal imaging (70%) and the last 9 children (30%) had abnormal findings, the most common abnormalities was enlarged vestibular aqueduct (13%), followed by common cavity (7%).Conclusion: Children with hearing loss, irrespective of the degree of hearing loss, the vestibular system should be screened, assessed as it may be responsible for co-morbidities in fine and gross motor difficulties. Early intervention and effective therapy will be the proper way to get good outcome.

ANÁLISE DO DESENVOLVIMENTO MOTOR DE BEBÊS PRÉ-TERMO

Prematurity predisposes the neonate to greater risks of comorbidities, one of which is the delay in motor development due to the immaturity of the organs and systems. Thus, this study aimed to evaluate the motor performance of preterm infants. Preterm infants with gestational age ≤ 37 weeks and excluded full-term infants with associated neurological diseases and syndromes were included in the study. The infants were screened from the Basic Health Units and evaluated through the Alberta motor Infant scale scale (AIMS). After the analysis of the development, 72,72% of the babies had normal motor development, while 27,28% presented suspicious motor performance.

Study of Effectivenes Taburia Programs (Multi Gizimicro Substances) at children Ages 6–24 Months in South Sulawesi Province

This study aims to look at the effectiveness of the taburia program on growth and development in children aged 6-24 months in South Sulawesi. The design of the study is an evaluation study, which is to evaluate the administration of powder taburia, and its impact on nutritional status and the growth and development of children aged 6-24 months. This research was conducted in Makassar, Pangkep and Jeneponto. Samples were children aged 6–24 months who were selected by 3 Public Health Center and then 3 villages with a sample of 675 children, but until the end of the study the remaining 398 children. The results of the study found that the overall taburia program was effective against changes in BB and PB significantly. For changes in z-skore BB/U is not significant while PB/U is significant. For the average BB baby changes in Jeneponto that are obedient to those who do not comply, Pangkep and Makassar are better compliant. As for changes in the PB/U z-score, the three regions that are not compliant change their body length better. For overall gross motor development, there are more people who do not comply with consuming taburia. For Makassar, only 5 children were obedient and normal motoric development and 36 children did not comply. Pangkep whose motor development is normal and obedient to 25 children, there are 2 children who obey and motor development above normal. Different from Jeneponto, none of them were normal who obeyed, while those who did not comply with normal motoric development were 95 children, some even had late development there were 12 children, although there was also one child above normal motor development. In conclusion, the program of providing taburia is effective against the increase and development of the bodies of children aged 6-24 months. It is recommended that giving taburia be recommended because it has an influence on a better line of growth and development.

Motor Development Evaluation of Low Risk Preterm Infants through the First Six Months of Life

Preterm and low birth weight children are at risk for developmental deficits, many preterm children even who do not develop cerebral palsy not having reached normal motor development level regarding their chronological age. Normal motor development starts at conception and continue throughout life according to a typical sequence, pattern and timing. Evaluation and early detection of developmental deviation in preterm infants will improve the concept of early intervention and result in better quality of life to the preterm infants and their families. A longitudinal, quantitative, comparative studyone hundred infants: Preterm and full-term infants were evaluated by Alberta Infant Motor Scale (AIMS) through the first 6 months of life. There was significant difference in mean values AIMS of preterm and full term newborns. Further studies are needed to assess motor development in preterm using corrected age.

Growth, health, and motor development of 5-year-old children born after preimplantation genetic diagnosis

To evaluate the growth, health, and motor development of children born after preimplantation genetic diagnosis (PGD). Observational cohort study and comparison of 5-year-old children born after PGD to similar aged children born after IVF/intracytoplasmic sperm injection (ICSI) and children from families with a genetic disorder born after natural conception (NC). University hospital. One hundred three children were included in the PGD group. The two control groups consisted of 90 children born after IVF/ICSI and 58 children born after NC. PGD. We measured height, weight, body circumferences, body mass index, and blood pressure and performed a dysmorphological and neurological examination. We also collected data about the children's medical history, health care consultations, and motor milestones. The mean height, weight, and body mass index were comparable for all groups. Six (5.8%) PGD, four (4.4%) IVF/ICSI, and five (8.6%) NC children had a major congenital abnormality. The incidence of acute and chronic illnesses was similar in all groups. Motor milestones were achieved on time, but the IVF/ICSI group had a slightly younger mean sitting age. None of the children had severe neurological problems. Five-year-old children born after PGD show normal growth, health, and motor development when compared with children born after IVF/ICSI and NC children from families with a genetic disorder. NCT02149485.

SAT-299 48,xxyy Syndrome: A Case Report

Background: 48,XXYY syndrome is a rare chromosomal anomaly that causes infertility, developmental and behavioral disorders, among other health problems, in males. Affected patients are often taller than other males of their age. This condition is not inherited; it is predicted to occur as a random event during gametogenesis and is estimated to affect 1 in 18,000 to 40,000 males. Clinical case: A 8.7-year-old male patient was brought by his parents who reported a history of learning disabilities, mainly on math, as well as poor coordination and disabled motor skills, despite good visual-spatial skills and memorization. He has been followed by a neurologist and a karyotype required as part of the neurological investigation showed 48,XXYY aneuploidy. The patient was born after a full-term pregnancy resultant from in vitrofertilization. At birth, height and weight were appropriate for gestational age. He had normal motor development (started crawling at 8 months and walking at 14 months), but delayed development of the speech (3.4 years-old). He also had delayed appearance of the primary teeth. Previous pathological history included asthma and myopia, without additional comorbidities. At the first evaluation at the Endocrine Unit he had normal weight (33.2 Kg; Z: +1.29), but an elevated height for age (144.5 cm; Z: +2.34). His bone age showed an asynchrony between carpal and phalanxes (6 years and 9 years, respectively), as evaluated by the Greulich-Pyle method. Misaligned teeth and long fingers were also noted. A normal appearing external male genitalia was seen, while testicular volume was slightly higher than expected for his chronological and bone age (Tanner stage G2P1; Right and left testis of 4mL). Biochemical exams and thyroid function tests were unremarkable, and hormonal blood exams performed at the age of 9 year and 1 month were compatible with initiation of pubertal development as was his Tanner stage: LH 0.52 mIU/mL (prepubertal reference < 0.3), FSH 5.4 mIU/mL, Total Testosterone 28.04 ng/dL, Estradiol 16.4 pg/mL, all by a immunochemiluminescent assay. Echocardiogram was normal, as well as MRI of the brain. The patient continues to be followed by a multidisciplinary team in order to address all the aspects of the syndrome, including neurological, behavioral and cognitive function, and its endocrine hallmarks, particularly growth pattern, osteometabolic status, pubertal development and sexual hormones production in later life. Conclusion: We report a rare case of 48,XXYY syndrome, with a slightly early pubertal development and asynchronous bone age maturation. Close follow up is warranted in those challenging cases due to the potential impact on multiple health aspects.

Spectrum of clinical heterogeneity of β-tubulin TUBB5 gene mutations

Microcephaly is a rare condition in which the occipitofrontal circumference in a child is more than two standard deviations below the mean of children of the same age and gender. It is mainly caused by genetic abnormalities that interfere with the growth of the cerebral cortex during early months of fetal development. We present a case of a 12 years old patient with microcephaly. To identify a possible genetic origin of the phenotype, we performed array CGH and exome sequencing in the patient. Exome sequencing revealed the presence of a de novo missense mutation in the TUBB5 gene (E401K). Mutations in the TUBB5 are mainly responsible for microcephaly but the clinical spectrum is wide, from patients with severe developmental delay, and the presence of different brain malformations, to patients with only slightly cognitive impairment and normal motor development. Our patient shows a milder phenotype than other patients carrying the same mutation. These differences in the clinical features suggest that other factors, presumably genetic or epigenetic, could be modulating clinical expressivity of TUBB5. It is therefore evident that more functional studies are needed to understand the pathology that underlies the clinical spectrum of tubulin associated disease states.

Molecular and Genetic Study of Limb-Girdle Muscular Dystrophy 2D in Patient Cohorts with Various Forms of Progressive Muscular Dystrophies

Limb-girdle muscular dystrophy 2D (LGMD 2D) is the most common form of sarcoglycanopathies, which include autosomal recessive LGMDs caused by various molecular defects in the genes encoding sarcoglycan family proteins (α, β, γ, and δ). LGMD 2D occurs owing to mutations in the SGCA gene that encodes α-sarcoglycan. In general, it is difficult to distinguish clinical features of LGMD 2D from ones of both other pseudohypertrophic LGMDs and Duchenne/Becker muscular dystrophy (D/BMD). In the present paper, the study of LGMD 2D based on the analysis of the frequency of recurrent SGCA gene variants (c.229C>T, c.271G>A, and c.850C>T) in three patient cohorts with progressive muscular dystrophy manifesting itself after a normal motor development period was conducted. No LGMD 2D patients were found within the cohort of patients with clinical diagnosis of Emery–Dreifuss muscular dystrophy. The percentage of LGMD 2D patients was no less than 1.9% in the patient cohort with clinical diagnosis of LGMD, while LGMD 2D accounted for no less than 0.6% in the patient cohort with clinical diagnosis of D/BMD. It is noteworthy that, in these two cohorts, the most common SGCA variant in the world, c.229C>T, and a variant found in only one Italian family, c.271G>A, account for almost the same number of affected chromosomes. Therefore, LGMD 2D patients from Russia differ from LGMD 2D patients from all over the world in the presence of two major variants of this gene (c.229C>T and c.271G>A). The information value of the test system for the detection of three SGCA gene variants (the capability to reveal at least one mutant allele) was on average rather high (70% in the group of patients with LGMD and 50% in the group of patients with D/BMD); therefore this test system could be recommended as the primary step of LGMD 2D molecular diagnostics in patients with the corresponding clinical features.

Spontaneous movements in the first four months of life: An accelerometric study in moderate and late preterm infants.

Moderate preterm infants (MPI) and late preterm infants (LPI) account for the majority of children born preterm. Up to 5% of MPI and LPI are estimated to manifest neurodevelopmental impairments. However, information about normal early motor development in these patients is lacking. To find characteristic patterns for motor development in the first four months of life among MPI and LPI without risk factors for developmental impairment by using accelerometry of spontaneous movements. Prospective and observational study. Twenty-three MPI and LPI (9 female, 14 male) without known risk factors for neurodevelopmental impairment were included in this study. Spontaneous movements were measured by accelerometry at the time of hospital discharge (mean: 36.6wks postmenstrual age (PMA)) and at the corrected age of three months (mean: 53.0wks PMA). Motor development was described by analyzing 36 parameters calculated from the acceleration signal. Normal neurodevelopmental outcome was confirmed by Bayley Scales of Infant Development at the corrected age of two years. Statistically significant differences (p < 0.05) between the two measurements could be shown in 26 out of the 36 parameters. Striking changes in motor development were an increase in acceleration and variability of the spontaneous movements, the main criterion for analyzing spontaneous movements. Furthermore, the regularity of spontaneous movements increased significantly. Characteristic patterns of normal motor development in MPI and LPI can be identified and provide a basis for future investigations aiming at the early detection of abnormal motor development for this specific patient group.

Study of Effectivenes Taburia Programs (Multi Gizimicro Substances) at children Ages 6–24 Months in South Sulawesi Province

This study aims to look at the effectiveness of the taburia program on growth and development in children aged 6–24 months in South Sulawesi. The design of the study is an evaluation study, which is to evaluate the administration of powder taburia, and its impact on nutritional status and the growth and development of children aged 6–24 months. This research was conducted in Makassar, Pangkep and Jeneponto. Samples were children aged 6–24 months who were selected by 3 Public Health Center and then 3 villages with a sample of 675 children, but until the end of the study the remaining 398 children. The results of the study found that the overall taburia program was effective against changes in BB and PB significantly. For changes in z-skore BB/U is not significant while PB/U is significant. For the average BB baby changes in Jeneponto that are obedient to those who do not comply, Pangkep and Makassar are better compliant. As for changes in the PB/U z-score, the three regions that are not compliant change their body length better. For overall gross motor development, there are more people who do not comply with consuming taburia. For Makassar, only 5 children were obedient and normal motoric development and 36 children did not comply. Pangkep whose motor development is normal and obedient to 25 children, there are 2 children who obey and motor development above normal. Different from Jeneponto, none of them were normal who obeyed, while those who did not comply with normal motoric development were 95 children, some even had late development there were 12 children, although there was also one child above normal motor development. In Conclusion, the program of providing taburia is effective against the increase and development of the bodies of children aged 6–24 months. It is recommended that giving taburia be recommended because it has an influence on a better line of growth and development.

Comparative study between school and motor performance in children aged 6 to 11 years according to teachers’ perceptions

Abstract Introduction: Motor skills are enlarged during schooling age, with possible relation between motor and school performance. Objective: Compare motor skills of children with good and poor school performance, according to the teacher’s perception in the classroom. Method: School children aged 6 to 11 years were divided into two groups; poor school performance (PSP) and good school performance (GSP) and evaluated using the Motor Development Scale (MDS). The chronological age, general motor age and the motor quotient of each area evaluated were compared between the groups using the Mann-Whitney Test. The Chi-square test was used to associate the motor performance classification and the school performance. Results: Chronological age was similar between groups, although the general motor age was smaller in the PSP. The general motor quotient and the motor quotients in the areas of body scheme, spatial and temporal organization were significantly smaller in PSP. Most children were classified by the MDS as Low Normal or Medium Normal motor skills in both groups; however in the GSP, 27.5% of the children had a High Normal or Superior motor development and only 2.5% were classified as Very Inferior or Inferior. In the PSP, 12.5% had a Very Inferior or Inferior performance and only 6.25% had a High Normal or Superior performance (p &lt; 0.05 - chi-square test). Conclusion: Results show a direct connection between poor school performance and motor skill difficulties, which illustrates the relation between motor and cognitive skills.

REHABILITATION OF INFANTS AFTER TRANSTIBIAL AMPUTATION DUE TO THROMBOSIS IN THE PERINATAL PERIOD. CASE REPORT

Congenital thrombosis and amputation in infancy is not common. Therefore, the existing literature lacks sufficient evidence regarding this subject. Available research primarily focuses on treatment and causes of thrombosis in children. The paper describes a case of preterm infant after transtibial amputation due to common iliac artery thrombosis during the perinatal period. The girl began neurodevelopmental therapy based on normal development patterns of infants, which was provided three times a week for 45 minutes. The rehabilitation process also included prosthesis and surgical interventions. The assessment of motor development of the child was carried out at the age of 6, 9, 12, 18 and 20 months, using the motor scale of the Albert Infants Motor Scale (AIMS). Case analysis allows to state that infant rehabilitation after transtibial amputation should be individualized, and focus on supporting normal motor development, based on the correct movement sequences of infants. Additionally, the AIMS scale can be used to assess the gross motor development in infants after amputation and is useful in formulating early therapeutic intervention. A prosthetist should perform prosthesis revisions as often as needed, i.e., in infants that is usually every 4 months. What is more, successful outcomes can be achieved by implementing proper surgical procedures regarding the appositional overgrowth of the residual limb in growing children.

Status Gizi dan Perkembangan Motorik Halus Anak Usia 48 – 60 Bulan

&lt;p&gt;&lt;em&gt;Background: Fine motor development in infants and young children is very important. Impaired motor coordination is known to affect 1 in 20 school-aged children. Objective: The study aims to describe the nutritional status and fine motor development of children aged 48-60 months in grade A students of PAUD Pertiwi Metro City. Methods: This study uses a descriptive design to describe the nutritional status and fine motor development of children aged 48-60 months. The study population was students of class A PAUD Pertiwi Metro City with a sample of 50 people. The sampling technique uses accidental sampling. Results: The results showed a picture of 12% of children with underweight nutritional status, there were 6% of children with normal motor development. There are children with normal nutritional status of 93.2% with normal fine motor development. Conclusion: The study concluded that the nutritional status of children has a tendency to support fine motor development in children aged 48 - 60. It is necessary for the school to collaborate with parents to monitor children's nutritional status and motor development routinely so that children can pass each developmental task according to their age.&lt;/em&gt;&lt;em&gt;&lt;/em&gt;&lt;/p&gt;

Futsal as a strategy for the improvement of elementary abilities and for the development of the body image in children

This current study aims to analyze the contribution of futsal practice in global praxis and body image in children in a specialized motor stage, evaluating the motor performance before and after an intervention in the following factors: hands and feet global praxis and body image. It was adopted the application method of 18 one-hour twice a week session, divided into three modules, I) displacement activities in different directions; II) coordination activities and reaction time and III) throwing and kicking activities. Twenty male participants, aged 8 to 12 years, with normal motor development were used. The survey was conducted at a private school. The results found were a significant improvement in the hits of the tennis balls with hands and make the number of hits in kicking the ball with his feet. Regarding the analysis of body image after the proposed intervention, the children has shown the body parts performance incorporated in drawings that were not previously present. It is concluded that there are positive contributions of the futsal practice in respect to the global praxis practice and body image in children in a specialized motor stage.

Congenital Diaphragmatic Hernia: Antenatal Diagnosis and Successful Repair In Preterm Neonate Case Report

Most of the congenital diaphragmatic hernias (CDH) observed in the left hemi diaphragm. The pathogenesis of CDH is not completely understood; but abnormal development of the diaphragm at 6-10 weeks' supposed to be the cause in most of the cases. Although CDH usually occurs sporadically, environmental exposures have been implicated. Improvement of the antenatal imaging techniques has allowed early diagnosis and evaluation of the associated anomalies. In antenatally diagnosed CDH cases, multidisciplinary team management and delivery at tertiary centers with proper facilities may be provided to optimize the outcome. A 39-year-old woman, with the history of one previous cesarean section, was admitted to the hospital at 25 weeks’ gestation, because of placenta previa and her antenatal ultrasound showed fetal CDH with polyhydramnios. During hospitalization, she was monitored for hemoglobin levels, consumptive coagulopathy, and fetal well-being. Betamethasone was given to accelerate the fetal lung maturity, and magnesium sulphate for fetal neuro-protection. Due to an attack of heavy antepartum hemorrhage, delivery occurred at the gestational age of 28 weeks + 6 days. The delivered female newborn was admitted to the neonatal intensive care unit (NICU) because of respiratory distress and prematurity, and received surfactant, dobutamine and intravenous antibiotics. Chest examination of the studied neonate showed diminished air entry on the left side, and chest X-ray showed stomach shadow in the left hemi thorax. After exclusion of congenital heart diseases and intracranial hemorrhage, the baby was successfully operated on the postpartum 7th day, and discharged from the NICU 60 days after the operation. Two months after discharge from the NICU, examination of the studied neonate was successfully operated on the postpartum 7th day showed normal growth parameters and appropriate motor and sensory development for her age. Antenatal diagnosis of CDH allows multidisciplinary team management and delivery at tertiary center with the proper facilities to optimize the outcome.

LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.

Congenital muscular dystrophy type 1A (MDC1A) is one of the main subtypes of early-onset muscle disease, caused by disease-associated variants in the laminin-α2 (LAMA2) gene. MDC1A usually presents as a severe neonatal hypotonia and failure to thrive. Muscle weakness compromises normal motor development, leading to the inability to sit unsupported or to walk independently. The phenotype associated with LAMA2 defects has been expanded to include milder and atypical cases, being now collectively known as LAMA2-related muscular dystrophies (LAMA2-MD). Through an international multicenter collaborative effort, 61 new LAMA2 disease-associated variants were identified in 86 patients, representing the largest number of patients and new disease-causing variants in a single report. The collaborative variant collection was supported by the LOVD-powered LAMA2 gene variant database (https://www.LOVD.nl/LAMA2), updated as part of this work. As of December 2017, the database contains 486 unique LAMA2 variants (309 disease-associated), obtained from direct submissions and literature reports. Database content was systematically reviewed and further insights concerning LAMA2-MD are presented. We focus on the impact of missense changes, especially the c.2461A>C (p.Thr821Pro) variant and its association with late-onset LAMA2-MD. Finally, we report diagnostically challenging cases, highlighting the relevance of modern genetic analysis in the characterization of clinically heterogeneous muscle diseases.