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1.
Artículo en Inglés | MEDLINE | ID: mdl-39262286

RESUMEN

AIM: To investigate the diagnostic accuracy of parent-completed Ages and Stages Questionnaire, Third Edition (ASQ-3) to identify abnormal or delayed gross motor development in infants born less than 1000 g or less than 28 weeks gestation. METHODS: Prospective cohort study of high-risk infants comparing ASQ-3 as the index test with concurrent score on Alberta Infant Motor Scale (AIMS) as the reference standard, at 4-, 8- and 12-month corrected (post-term) age. Reference standard positivity cut-offs were 'Abnormal motor development' (AIMS Clinical Range) and 'Motor delay' (AIMS score >1 SD below mean, not captured in Clinical Range). RESULTS: Participating infants (n = 191) had mean gestational age (95% confidence interval (CI)) 26.8 weeks (26.6-27.1) and mean birthweight (95% CI) 870 g (844-896). AIMS rated 51%, 31% and 23% of infants as having 'Abnormal motor development' and 12%, 28% and 13% with 'Motor delay', at 4, 8 and 12 months, respectively. Diagnostic accuracy of ASQ-3 to identify abnormal motor development was acceptable for older infants only if 'Monitor' cut-off was used: sensitivity (95% CI) 33% (23-44), 86% (73-95) and 80% (63-92) and specificity (95% CI) 84% (74-92), 76% (66-84), and 76% (67-83) at 4, 8 and 12 months, respectively. ASQ-3 sensitivity to identify motor delay was low. CONCLUSIONS: ASQ-3 has poor sensitivity to identify abnormal or delayed motor development at 4 months. Using the 'Monitor' cut-off improves the diagnostic accuracy of ASQ-3 for identification of older infants with abnormal motor development who are at high risk of motor disability. However, ASQ-3 has poor sensitivity to identify motor delay. Clinical motor assessment of high-risk infants is recommended, particularly in early infancy.

2.
Early Hum Dev ; 198: 106111, 2024 Sep 02.
Artículo en Inglés | MEDLINE | ID: mdl-39244966

RESUMEN

BACKGROUND: It is unknown whether ultra-early physiotherapy commenced during neonatal intensive care unit admission is of value for optimising developmental outcomes in preterm/term infants at high-risk of cerebral palsy or motor-delay. AIMS: To determine whether ultra-early parent-administered physiotherapy to preterm/term high- risk infants commenced at earliest from 34-weeks post menstrual age, improves motor outcomes at 16-weeks corrected age (CA) compared to usual care. METHODS: Single-blind randomised controlled pilot study with 30 infant participants. The primary outcome was the Alberta Infant Motor Scale (AIMS) total score at 16-weeks CA. Secondary outcomes included (i) parent Depression Anxiety and Stress Score and Parent Perceptions Survey at 16-weeks CA; and (ii) Bayley Scales of Infant Development at 12-months CA. RESULTS: There were no clinically worthwhile effects at 16-weeks CA on the AIMS (mean between-group difference, 95% CI: -0.2, -2.4 to 2.0) or most secondary outcomes. However, the parents' "perception of treatment effectiveness" and "perception of change" favoured the experimental group. CONCLUSIONS: In this pilot trial, there was no clinically worthwhile effect of ultra-early parent-administered physiotherapy over usual care on the AIMS. However, the intervention was feasible for infants, acceptable to parents and parents perceived a benefit of treatment. Whilst this trial did not demonstrate treatment effectiveness using the AIMS, these findings should be interpreted cautiously because of the small sample size, the low responsivity of the AIMS to change in motor performance and the heterogeneity of the participants. Therefore, the intervention should not be abandoned on the basis of this trial, but rather further evaluated in a larger trial that addresses some of the learnings from this one.

3.
Autism Res ; 2024 Jul 13.
Artículo en Inglés | MEDLINE | ID: mdl-39001643

RESUMEN

Motor delays in children with autism spectrum disorder (ASD) are being increasingly recognized using a brief screening tool, called the Developmental Coordination Disorder-Questionnaire (DCD-Q). Further validation of these motor delays using a more robust normed, developmental measure is clearly warranted. In this analysis, a nationally representative sample from the SPARK study was used wherein parents completed the DCD-Q and a more widely used developmental/adaptive functioning measure, called the Vineland Adaptive Behavior Scales (VABS); which comprises of various developmental domains including the motor domain (N = 2,644 completed the DCD-Q and VABS). Eighty two percent children with ASD had a motor delay based on their DCD-Q scores whereas 77% children with ASD had a motor delay based on their VABS motor domain scores. Approximately 70% children with ASD had concurrent motor delay on the DCD-Q and the VABS (i.e., positive predictive value of DCD-Q). Furthermore, there was 81.2% accuracy in reporting a risk/no risk of motor delay across both measures. Overall, these statistics align with the recent reports on proportions of children with ASD having motor delays. Parents of ~70% children with ASD are reporting motor delays that are corroborated across two different motor measures. This not only validates the motor delays reported based on the DCD-Q but also indicates the need for concurrent motor screening using both DCD-Q and VABS for better detection of motor delays in children with ASD. Only 10%-32% of the current SPARK sample received any physical or recreational therapies. This mismatch between presence of motor delays and the lack of access to motor services highlights the need for more motor intervention referrals for children with ASD.

4.
Genes (Basel) ; 15(5)2024 04 23.
Artículo en Inglés | MEDLINE | ID: mdl-38790154

RESUMEN

Infantile onset transient hypomyelination (IOTH) is a rare form of leukodystrophy that is associated with transient motor impairment and delayed central nervous system myelination. Here, we report a case of a new mutation in the transmembrane protein 63A (TMEM63A) gene identified using Whole-Exome Sequencing (WES) in an 8.5-year-old boy with clinical symptoms similar to IOTH. The patient exhibited a mild developmental delay, including hypotonia and delayed motor milestones, as well as some notable phenotypic characteristics, such as macrocephaly and macrosomia. Despite the absence of early neuroimaging, genetic testing revealed a paternally inherited variant in TMEM63A (NM_14698.3:c.220A>T;p:(Arg74*)), potentially linked to infantile transient hypomyelinating leukodystrophy type 19. Our findings in this study and the patient's favorable clinical course underscore the potential for successful myelination even with delayed initiation and may contribute to a better understanding of the genotype-phenotype correlation in IOTH, emphasizing the importance of genetic analysis in unresolved developmental delay cases and providing critical insights for accurate diagnosis, prognosis and potential therapeutic strategies in rare leukodystrophies.


Asunto(s)
Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias , Proteínas de la Membrana , Niño , Humanos , Masculino , Codón sin Sentido/genética , Secuenciación del Exoma , Estudios de Asociación Genética , Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias/genética , Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias/patología , Heterocigoto , Proteínas de la Membrana/genética
5.
Heliyon ; 10(6): e27946, 2024 Mar 30.
Artículo en Inglés | MEDLINE | ID: mdl-38496842

RESUMEN

Background: Autosomal recessive intellectual developmental disorder-3 is caused by homozygous or compound heterozygous mutations in the CC2D1A gene. The disorder is characterized by intellectual disability (ID) and autism spectrum disorder (ASD). To date, 39 patients from 17 families with CC2D1A -related disorders have been reported worldwide, in whom only six pathogenic or likely pathogenic loss-of-function variants and three variants of uncertain significance (VUS) in the CC2D1A gene have been identified in these patients. Methods: We described a patient with ID from a non-consanguineous Chinese family and whole-exome sequencing (WES) was used to identify the causative gene. Results: The patient presented with severe ID and ASD, speech impairment, motor delay, hypotonia, slight facial anomalies, and finger deformities. Threatened abortion and abnormal fetal movements occurred during pregnancy with the proband but not his older healthy sister. WES analysis identified a homozygous nonsense variant, c.736C > T (p.Gln246Ter), in the CC2D1A gene. In addition, six novel likely pathogenic CC2D1A variants were identified by a retrospective review of the in-house database. Conclusions: This study expands the genetic and clinical spectra of CC2D1A-associated disorders, and may aid in increasing awareness of this rare condition. Our findings have provided new insights into the clinical heterogeneity of the disease and further phenotype-genotype correlation, which could help to offer scope for more accurate genetic testing and counseling to affected families.

6.
Braz J Phys Ther ; 28(1): 100590, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38359542

RESUMEN

BACKGROUND: Children with motor delays are at increased risk for delayed means-end problem-solving (MEPS) performance. OBJECTIVES: To evaluate children with motor delays: 1) the impact of motor delay severity and MEPS mastery timing on developmental trajectories of MEPS; and 2) the effectiveness of Sitting Together And Reaching To Play (START-Play) intervention for improving MEPS. METHODS: This represents a secondary analysis from a multi-site randomized controlled trial, with blinded assessors and prospective registration. Children with mild or significant motor delays (n = 112, mean age=10.80, SD=2.59 months at baseline) were randomly assigned to START-Play or usual care early intervention (UC-EI) and assessed at five visits across one year using the Means-End Problem-Solving Assessment Tool that included three 30-second MEPS trials per visit. Task mastery occurred at the first visit the child achieved the highest level of performance in at least two of the three trials. Multilevel analyses evaluated trajectories of MEPS outcomes dependent upon the timing of MEPS mastery, motor delay severity, and intervention group. RESULTS: At baseline, children with mild motor delays demonstrated better MEPS than children with significant delays, but this difference was only observed for children who achieved mastery late. Children with significant delays demonstrated greater improvements in MEPS in the post-intervention phase compared to children with mild delays. No MEPS differences were found between START-Play and UC-EI. CONCLUSION: Motor delay severity and timing of task mastery impacted MEPS trajectories, whereas START-Play intervention did not impact MEPS for children with motor delays. CLINICAL TRIALS REGISTRY IDENTIFIER: NCT02593825 (https://clinicaltrials.gov/ct2/show/NCT02593825).


Asunto(s)
Trastornos de la Destreza Motora , Niño , Humanos , Intervención Educativa Precoz , Solución de Problemas , Estudios Prospectivos , Estudios Multicéntricos como Asunto , Ensayos Clínicos Controlados Aleatorios como Asunto
7.
BMC Pediatr ; 24(1): 60, 2024 Jan 19.
Artículo en Inglés | MEDLINE | ID: mdl-38243213

RESUMEN

NUDT2 is an enzyme important for maintaining the intracellular level of the diadenosine tetraphosphate (Ap4A). Bi-allelic loss of function variants in NUDT2 has recently been reported as a rare cause of intellectual disability (ID). Herein, we describe a Chinese girl with ID, attention deficit hyperactivity disorder (ADHD), and motor delays with abnormal walking posture and difficulty climbing stairs, who bears compound heterozygous variants c.34 C > T (p.R12*) and c.194T > G (p.I65R) in NUDT2. Homozygous variants c.34 C > T (p.R12*) or c.186del (p.A63Qfs*3) in NUDT2 were previously reported to cause ID. This is the first patient with ID due to compound heterozygous variants in NUDT2 and p.I65R is a novel missense variant. This study enriched the genotype and phenotype of NUDT2-related ID and supported the critical developmental involvement of NUDT2.


Asunto(s)
Discapacidad Intelectual , Femenino , Humanos , Discapacidad Intelectual/genética , Genotipo , Fenotipo , Mutación Missense , Homocigoto , Hidrolasas Nudix , Monoéster Fosfórico Hidrolasas/genética
8.
Phys Occup Ther Pediatr ; 44(2): 164-179, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-37550959

RESUMEN

AIMS: Infants with neuromotor disorders demonstrate delays in sitting skills (decreased capacity) and are less likely to maintain independent sitting during play than their peers with typical development (decreased performance). This study aimed to quantify developmental trajectories of sitting capacity and sitting performance in infants with typical development and infants with significant motor delay and to assess whether the relationship between capacity and performance differs between the groups. METHODS: Typically developing infants (n = 35) and infants with significant motor delay (n = 31) were assessed longitudinally over a year following early sitting readiness. The Gross Motor Function Measure (GMFM) Sitting Dimension was used to assess sitting capacity, and a 5-min free play observation was used to assess sitting performance. RESULTS: Both capacity and performance increased at a faster rate initially, with more deceleration across time, in infants with typical development compared to infants with motor delay. At lower GMFM scores, changes in GMFM sitting were associated with larger changes in independent sitting for infants with typical development, and the association between GMFM sitting and independent sitting varied more across GMFM scores for typically developing infants. CONCLUSIONS: Intervention and assessment for infants with motor delay should target both sitting capacity and sitting performance.


Asunto(s)
Desarrollo Infantil , Trastornos de la Destreza Motora , Lactante , Humanos , Destreza Motora
9.
J Pediatr ; 266: 113838, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37995930

RESUMEN

OBJECTIVE: To examine the relationship between perioperative brain injury and neurodevelopment during early childhood in patients with severe congenital heart disease (CHD). STUDY DESIGN: One hundred and seventy children with CHD and born at term who required cardiopulmonary bypass surgery in the first 6 weeks after birth were recruited from 3 European centers and underwent preoperative and postoperative brain MRIs. Uniform description of imaging findings was performed and an overall brain injury score was created, based on the sum of the worst preoperative or postoperative brain injury subscores. Motor and cognitive outcomes were assessed with the Bayley Scales of Infant and Toddler Development Third Edition at 12 to 30 months of age. The relationship between brain injury score and clinical outcome was assessed using multiple linear regression analysis, adjusting for CHD severity, length of hospital stay (LOS), socioeconomic status (SES), and age at follow-up. RESULTS: Neither the overall brain injury score nor any of the brain injury subscores correlated with motor or cognitive outcome. The number of preoperative white matter lesions was significantly associated with gross motor outcome after correction for multiple testing (P = .013, ß = -0.50). SES was independently associated with cognitive outcome (P < .001, ß = 0.26), and LOS with motor outcome (P < .001, ß = -0.35). CONCLUSION: Preoperative white matter lesions appear to be the most predictive MRI marker for adverse early childhood gross motor outcome in this large European cohort of infants with severe CHD. LOS as a marker of disease severity, and SES influence outcome and future intervention trials need to address these risk factors.


Asunto(s)
Lesiones Encefálicas , Cardiopatías Congénitas , Lactante , Humanos , Preescolar , Encéfalo/patología , Lesiones Encefálicas/etiología , Lesiones Encefálicas/patología , Cardiopatías Congénitas/cirugía , Cardiopatías Congénitas/complicaciones , Imagen por Resonancia Magnética , Factores de Riesgo
10.
Heliyon ; 9(10): e20223, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37810849

RESUMEN

Kabuki syndrome (KS) is a multiple congenital anomaly syndrome that is characterized by postnatal growth deficiency, hypotonia, short stature, mild-to-moderate intellectual disability, skeletal abnormalities, persistence of fetal fingertip pads, and distinct facial appearance. It is mainly caused by pathogenic/likely pathogenic variants in the KMT2D or KDM6A genes. Here, we described the clinical features of nine sporadic KS patients with considerable phenotypic heterogeneity. In addition to intellectual disability and short stature, our patients presented with a high prevalence of motor retardation and recurrent otitis media. We recommended that KS should be strongly considered in patients with motor delay, short stature, intellectual disability, language disorder and facial deformities. Nine KMT2D variants, four of which were novel, were identified by whole-exome sequencing. The variants included five nonsense variants, two frameshift variants, one missense variant, and one non-canonical splice site variant. In addition, we reviewed the mutation types of the pathogenic KMT2D variants in the ClinVar database. We also indicated that effective mRNA analysis, using biological materials from patients, is helpful in classifying the pathogenicity of atypical splice site variants. Pedigree segregation analysis may also provide valuable information for pathogenicity classification of novel missense variants. These findings extended the mutation spectrum of KMT2D and provided new insights into the understanding of genotype-phenotype correlations, which are helpful for accurate genetic counseling and treatment optimization.

11.
Curr Biol ; 33(12): 2557-2565.e4, 2023 06 19.
Artículo en Inglés | MEDLINE | ID: mdl-37279754

RESUMEN

Primates have evolved sophisticated, visually guided reaching behaviors for interacting with dynamic objects, such as insects, during foraging.1,2,3,4,5 Reaching control in dynamic natural conditions requires active prediction of the target's future position to compensate for visuo-motor processing delays and to enhance online movement adjustments.6,7,8,9,10,11,12 Past reaching research in non-human primates mainly focused on seated subjects engaged in repeated ballistic arm movements to either stationary targets or targets that instantaneously change position during the movement.13,14,15,16,17 However, those approaches impose task constraints that limit the natural dynamics of reaching. A recent field study in marmoset monkeys highlights predictive aspects of visually guided reaching during insect prey capture among wild marmoset monkeys.5 To examine the complementary dynamics of similar natural behavior within a laboratory context, we developed an ecologically motivated, unrestrained reach-to-grasp task involving live crickets. We used multiple high-speed video cameras to capture the movements of common marmosets (Callithrix jacchus) and crickets stereoscopically and applied machine vision algorithms for marker-free object and hand tracking. Contrary to estimates under traditional constrained reaching paradigms, we find that reaching for dynamic targets can operate at incredibly short visuo-motor delays around 80 ms, rivaling the speeds that are typical of the oculomotor systems during closed-loop visual pursuit.18 Multivariate linear regression modeling of the kinematic relationships between the hand and cricket velocity revealed that predictions of the expected future location can compensate for visuo-motor delays during fast reaching. These results suggest a critical role of visual prediction facilitating online movement adjustments for dynamic prey.


Asunto(s)
Callithrix , Desempeño Psicomotor , Animales , Movimiento , Mano , Visión Ocular
12.
BMC Pediatr ; 23(1): 306, 2023 06 19.
Artículo en Inglés | MEDLINE | ID: mdl-37331958

RESUMEN

BACKGROUND: The long-term effects of a Cesarean section (CS) birth on child neurodevelopment are of increasing interest. In this study, we examined the associations between mode of delivery and presence of neurodevelopmental disorders in toddlers. Moreover, given that the prevalence of several neurodevelopmental disorders such as autism spectrum disorder (ASD) is known to differ by sex, we also investigated these associations separately in male and female toddlers. METHODS: We investigated 65,701 mother-toddler pairs from the Japan Environment and Children's Study, a nationally representative children's cohort study. To investigate the associations between mode of delivery (CS or vaginal delivery) and neurodevelopmental disorders (motor delay, intellectual disability, and ASD) in 3-year-old toddlers as a whole and stratified by sex, we used logistic regression models to calculate adjusted odds ratios (aORs) with 95% confidence intervals (CIs). RESULTS: The morbidity of ASD at age 3 years was higher for children delivered by CS than those delivered vaginally (aOR 1.38, 95% CI 1.04-1.83). However, no such difference was evident in the case of motor delay or intellectual disability (aOR 1.33, 95% CI 0.94-1.89; aOR 1.18, 95% CI 0.94-1.49, respectively). In the analysis by sex, CS was not associated with increased risk of any of the neurodevelopmental disorders in males, but it was associated with increased risks of motor delay (aOR 1.88, 95% CI 1.02-3.47) and ASD (aOR 1.82, 95% CI 1.04-3.16) in females. CONCLUSIONS: This study provides evidence of significant associations between mode of delivery and neurodevelopmental disorders in early childhood. Females may be more sensitive to the effects of CS than males.


Asunto(s)
Trastorno del Espectro Autista , Discapacidad Intelectual , Trastornos del Neurodesarrollo , Humanos , Masculino , Femenino , Preescolar , Embarazo , Cesárea/efectos adversos , Trastorno del Espectro Autista/epidemiología , Trastorno del Espectro Autista/etiología , Estudios de Cohortes , Discapacidad Intelectual/epidemiología , Discapacidad Intelectual/etiología , Pueblos del Este de Asia , Japón/epidemiología , Trastornos del Neurodesarrollo/epidemiología , Trastornos del Neurodesarrollo/etiología
13.
Cureus ; 15(3): e36211, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37069881

RESUMEN

Parkinson's disease (PD) is a prevalent neurodegenerative disorder that occurs in old age due to a decrease in dopamine, which causes nerve cell destruction. This disease is difficult to diagnose since its symptoms are similar to those of the aging process. Those with PD have impaired motor control and function, dyskinesia, and tremors. To treat PD, drugs that enhance the amount of dopamine given to the brain are administered to alleviate symptoms. This inquiry examines the prescription of rotigotine to achieve this objective. The primary objective of this review is to examine the usage of rotigotine in both the late and early stages of PD. The statistical model utilized in the review found that there was not a significant difference in the dosage of rotigotine prescribed to late and early-stage PD patients, however, there were some confounding variables that may have skewed this result; therefore, further research is necessary to validate or nullify this hypothesis.

14.
Am J Med Genet A ; 191(6): 1614-1618, 2023 06.
Artículo en Inglés | MEDLINE | ID: mdl-36891747

RESUMEN

Ethylmalonic encephalopathy (EE) is a rare, severe, autosomal recessive condition caused by pathogenic variants in ETHE1 leading to progressive encephalopathy, hypotonia evolving to dystonia, petechiae, orthostatic acrocyanosis, diarrhea, and elevated ethylmalonic acid in urine. In this case report, we describe a patient with only mild speech and gross motor delays, subtle biochemical abnormalities, and normal brain imaging found to be homozygous for a pathogenic ETHE1 variant (c.586G>A) via whole exome sequencing. This case highlights the clinical heterogeneity of ETHE1 mutations and the utility of whole-exome sequencing in diagnosing mild cases of EE.


Asunto(s)
Encefalopatías Metabólicas Innatas , Encefalopatías , Púrpura , Humanos , Encefalopatías Metabólicas Innatas/diagnóstico , Encefalopatías Metabólicas Innatas/genética , Púrpura/diagnóstico , Púrpura/genética , Encéfalo/patología , Encefalopatías/diagnóstico , Encefalopatías/genética , Encefalopatías/patología , Proteínas Mitocondriales/genética , Proteínas de Transporte Nucleocitoplasmático/genética
15.
Phys Occup Ther Pediatr ; 43(3): 321-337, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36221306

RESUMEN

AIMS: Children with neuromotor delays are at risk for reaching and object exploration impairments, which may negatively affect their cognitive development and daily activity performance. This study evaluated the effectiveness of the Sitting Together And Reaching To Play (START-Play) intervention on reaching-related exploratory behaviors in children with neuromotor delays. METHODS: In this randomized controlled clinical trial, 112 children (Mean = 10.80, SD = 2.59 months old at baseline) with motor delays were randomly assigned to receive START-Play intervention or usual care-early intervention. Performance for ten reaching-related exploratory behaviors was assessed at baseline and 1.5, 3, 6, 12 months post-baseline. Piecewise linear mixed-effects modeling was used to evaluate short- and long-term effects of the intervention. RESULTS: Benefits of START-Play were observed for children with significant motor delays, but not for those with mild delays. START-Play was especially beneficial for children with significant motor delays who demonstrated early mastery in the reaching assessment (i.e., object contact ≥65% of the time within 3 months after baseline); these children showed greater improvements in manual, visual, and multimodal exploration, as well as intensity of exploration across time. CONCLUSIONS: START-Play advanced the performance of reaching-related exploratory behaviors in children with significant motor delays.


Asunto(s)
Conducta Exploratoria , Trastornos de la Destreza Motora , Humanos , Niño , Lactante , Desarrollo Infantil , Actividades Cotidianas , Intervención Educativa Precoz
16.
JIMD Rep ; 63(5): 453-461, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-36101819

RESUMEN

Glycogen storage disease type 1a (GSD1a) is an inborn error of glucose metabolism characterized by fasting hypoglycemia, hepatomegaly, and growth failure. Late complications include nephropathy and hepatic adenomas. We conducted a retrospective observational study on a cohort of Amish patients with GSD1a. A total of 15 patients cared for at a single center, with a median age of 9.9 years (range 0.25-24 years) were included. All patients shared the same founder variant in GCPC c.1039 C > T. The phenotype of this cohort demonstrated good metabolic control with median cohort triglyceride level slightly above normal, no need for continuous overnight feeds, and a higher quality of life compared to a previous GSD cohort. The most frequent complications were oral aversion, gross motor delay, and renal hyperfiltration. We discuss our unique care delivery at a single center that cares for Amish patients with inherited disorders.

17.
Front Pediatr ; 10: 877345, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35573941

RESUMEN

Aim: To systematically examine the effect of early motor interventions on motor and locomotor development in infants <1 year of age with motor developmental disability or at risk of motor delay. Methods: Pertinent literature from January 2000 to September 2021 was identified by searching the PubMed, Embase, Cochrane, Pedro and Web of Science databases. Selection criteria included interventions starting before 12 months corrected age. Methodological quality was assessed with AACPDM criteria, Mallen score and Cochrane risk of bias methodology. Evaluation procedure was performed using PRISMA protocol (PICO approach) and AMSTAR-2. This review was preregistered in PROSPERO (CRD42021286445). Results: Ten articles met the inclusion criteria; seven had moderate to strong methodological quality. The interventions included treadmill training (n = 3), crawling training (n = 1), "tummy time" (n = 1), physical therapy with neonatal developmental program (n = 1) or Bobath approach (n = 1), treadmill training combined with active leg movements (n = 2) or Bobath physiotherapy (n = 1). The three key characteristics of effective interventions that emerged from the review were: (1) the infants' disability or risk of delay was well-defined; (2) the protocol was standardized and easy to replicate; (3) infants were required to make active movements. Conclusion: There is an urgent need for additional high-quality studies on the effects of early motor interventions on the gross motor and locomotor development of infants with a range of disabilities or risks for delay. Suggestions for future research are outlined.

18.
Children (Basel) ; 9(4)2022 Apr 16.
Artículo en Inglés | MEDLINE | ID: mdl-35455614

RESUMEN

Infants with critical congenital heart defects (CCHDs) are at increased risk for neurodevelopmental delays. The early identification of motor delays is clinically relevant to prevent or reduce long-term consequences. The current study aims to describe the motor-developmental pathways of infants with a CCHD. Motor development was assessed in 215 infants and toddlers using the Dutch version of the Bayley-III. At 3 months (n = 165), 9 months (n = 188), and 18 months (n = 171) the motor composite scores were 97, 98, and 104, respectively. A motor composite score of ≤-2 SD was only seen in 2.4%, 0%, and 2.3%, respectively, with gross motor deficits being observed more often than fine motor deficits (12% vs. 0% at 18 months). Over 90% of infants who scored average at 9 months still did so at 18 months. The majority of infants with below-average gross motor scores (≤-1) at 9 months still had a below-average or delayed motor score (≤-2 SD) at 18 months. Abnormal gross motor scores (≤-2 SD) increased with age. Infants with single-ventricle physiology performed significantly (p ≤ 0.05) worse on both fine and gross motor skills at 9 and 18 months compared to infants with other CCHDs.

19.
J Pediatr ; 245: 65-71, 2022 06.
Artículo en Inglés | MEDLINE | ID: mdl-35120984

RESUMEN

OBJECTIVE: To study the association between neighborhood risk and moderate to severe neurodevelopmental impairment (NDI) at 22-26 months corrected age in children born at <34 weeks of gestation. We hypothesized that infants born preterm living in high-risk neighborhoods would have a greater risk of NDI and cognitive, motor, and language delays. STUDY DESIGN: We studied a retrospective cohort of 1291 infants born preterm between 2005 and 2016, excluding infants with congenital anomalies. NDI was defined as any one of the following: a Bayley Scales of Infant and Toddler Development-III Cognitive or Motor composite score <85, bilateral blindness, bilateral hearing impairment, or moderate-severe cerebral palsy. Maternal addresses were geocoded to identify census block groups and create high-risk versus low-risk neighborhood groups. Bivariate and regression analyses were run to assess the impact of neighborhood risk on outcomes. RESULTS: Infants from high-risk (n = 538; 42%) and low-risk (n = 753; 58%) neighborhoods were compared. In bivariate analyses, the risk of NDI and cognitive, motor, and language delays was greater in high-risk neighborhoods. In adjusted regression models, the risks of NDI (OR, 1.43; 95% CI, 1.04-1.98), cognitive delay (OR, 1.62; 95% CI, 1.15-2.28), and language delay (OR, 1.58; 95% CI, 1.15-2.16) were greater in high-risk neighborhoods. Breast milk at discharge was more common in low-risk neighborhoods and was protective of NDI in regression analysis. CONCLUSIONS: High neighborhood risk provides an independent contribution to preterm adverse NDI, cognitive, and language outcomes. In addition, breast milk at discharge was protective. Knowledge of neighborhood risk may inform the targeted implementation of programs for socially disadvantaged infants.


Asunto(s)
Parálisis Cerebral , Trastornos del Desarrollo del Lenguaje , Trastornos del Neurodesarrollo , Niño , Estudios de Cohortes , Discapacidades del Desarrollo/epidemiología , Discapacidades del Desarrollo/etiología , Femenino , Edad Gestacional , Humanos , Lactante , Recién Nacido , Trastornos del Neurodesarrollo/epidemiología , Trastornos del Neurodesarrollo/etiología , Estudios Retrospectivos
20.
Dev Psychobiol ; 64(1): e22233, 2022 01.
Artículo en Inglés | MEDLINE | ID: mdl-35050510

RESUMEN

Infants' developing motor skills-including mastery of new postures such as sitting and standing-affect opportunities for learning that facilitate cognitive development. But how infant posture affects caregiver behavior is largely unexplored. Moreover, we know little about effects of posture on learning opportunities in infants with motor delay. This study asked how infants with typical development and infants with significant motor delay use various postures during play, and whether posture is related in real time to caregiver-provided cognitive learning opportunities. Infants were videotaped five times over the course of a year in a free play session with a caregiver, starting when they demonstrated initial sitting skills. Posture and cognitive opportunities were coded moment-by-moment to assess duration and temporal overlap. We found that infants with typical development and infants with motor delay displayed similar use of postures initially, but infants with typical development demonstrated more mature postures over time. We also found that for both groups of infants, caregivers were most likely to provide cognitive opportunities when infants were sitting independently, and least likely when infants were supine. Our findings highlight the importance of upright sitting in typical and atypical infant development and suggest potential areas of intervention for infants with motor delay.


Asunto(s)
Cuidadores , Postura , Niño , Desarrollo Infantil , Cognición , Humanos , Lactante , Destreza Motora
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