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1.
Cureus ; 16(8): e67056, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-39286678

RESUMEN

This case report details a 12-year-old male diagnosed with Hurler syndrome, a rare autosomal recessive disorder caused by a deficiency in the enzyme alpha-L-iduronidase. The patient exhibited typical symptoms, including developmental delays, ocular clouding, and distinctive skeletal deformities, along with mild cognitive abnormalities. Despite the presence of traditional clinical signs and elevated urine heparin and dermatan sulfate levels confirming the diagnosis, access to advanced treatments such as enzyme replacement therapy was severely limited due to socioeconomic constraints and a lack of diagnostic facilities in the region. This case highlights the critical need for accessible diagnostic and treatment options in resource-limited settings and underscores the importance of ethical decision-making in managing rare genetic disorders. The report advocates for a multidisciplinary approach to enhance outcomes for patients with Hurler syndrome.

2.
Cureus ; 16(7): e64194, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-39130997

RESUMEN

Background Breastfeeding is recognized as a crucial determinant of child health and development, yet its multifaceted effects remain underexplored in many contexts. This cross-sectional study investigates the association between breastfeeding practices and various health and developmental outcomes in infants and young children, focusing on exclusive breastfeeding, partial breastfeeding, and formula feeding. Done at Khyber Teaching Hospital, Pakistan, the research aims to provide comprehensive insights into the nuanced impacts of breastfeeding on child well-being. Objectives This study aims to assess the association between breastfeeding duration and practices with the incidence of infectious diseases in infants and young children. It investigates the relationship between different breastfeeding practices: exclusive breastfeeding, partial breastfeeding, and formula feeding and cognitive development outcomes in early childhood. Additionally, the study evaluates the role of breastfeeding in the development of motor skills in infants and young children. Methodology A cohort of 390 participants, aged one month to three years, participated in the study. Data collection encompassed parental interviews, clinical assessments using standardized tools such as the Bayley Scales of Infant Development, and reviews of medical records. Statistical analyses, including frequency analysis and chi-square tests, were conducted to elucidate the relationships between breastfeeding practices and health outcomes. Results Exclusive breastfeeding exhibited a significantly lower incidence of infectious diseases compared to partial breastfeeding and formula feeding. Specifically, among exclusively breastfed children, incidences of colds, pneumonia, and diarrhea were 32%, 39.7%, and 40%, respectively. These rates were notably higher in partially breastfed and formula-fed children. Cognitive development outcomes also varied significantly across feeding groups. Exclusively breastfed children demonstrated superior cognitive performance, with 34.2% rated above average, compared to only 6.5% in the formula-fed group. Additionally, the prevalence of developmental delays was lowest among exclusively breastfed children (14.1%), contrasting with 62.8% in the partial breastfeeding group and 77.0% in the formula-feeding group. Conclusions The study underscores the pivotal role of exclusive breastfeeding in promoting optimal child health and development. Exclusive breastfeeding is associated with significantly reduced incidences of infectious diseases, superior cognitive development outcomes, and a lower prevalence of developmental delays. These findings highlight the importance of supportive interventions and policies aimed at encouraging exclusive breastfeeding practices, ultimately enhancing child well-being and developmental trajectories.

3.
Cureus ; 16(6): e62648, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-39036156

RESUMEN

Developmental delay is a multifaceted condition that can hamper a child's ability to attain developmental benchmarks within expected timelines. Vitamin B12 deficiency has been identified as a potentially reversible causative factor and is critical to neurological function, influencing myelination and nerve conduction. Insufficiency during critical developmental stages can lead to motor, cognitive, and language delays. Physiotherapy interventions have been found effective in addressing motor delays associated with both developmental delay and B12 deficiency. Early intervention programs that focus on motor skill development, sensory integration, and adaptive equipment use are among the interventions that physiotherapists provide. Collaboration with multidisciplinary teams allows physiotherapists to manage B12 deficiency effectively and provide rehabilitative strategies aimed at maximizing motor function and overall development for long-term health. Early identification and intervention in children with developmental delays is crucial, especially in cases related to vitamin B12 deficiency. Physiotherapy is a critical aspect of addressing motor delays associated with developmental delay and B12 deficiency. By providing early interventions, physiotherapists can help children attain their full potential and attain developmental milestones. In conclusion, this highlights the significance of early identification and intervention in children with developmental delay, especially those with vitamin B12 deficiency, for optimal long-term health.

4.
Pediatr Neurol ; 157: 127-133, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38917516

RESUMEN

BACKGROUND: Periventricular leukomalacia (PVL) is a common brain injury in premature infants, and epilepsy remains a significant complication. One concerning electroencephalographic (EEG) pattern found is developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS). This pattern is associated with persistent neuropsychological and motor deficits, even without a diagnosis of epilepsy. The purpose of this study is to identify the relationships between various PVL grades and EEG patterns in this population on follow-up visits, especially the occurrence of DEE-SWAS pattern on EEG. METHODS: This is a retrospective study of <36 weeks gestational age newborns who were followed in the neurodevelopmental clinic at Corewell Health East/Corewell Health Children's Hospital in Royal Oak, Michigan, between 2020 and 2022. Patients' demographics along with prematurity complications, diagnostic head ultrasound (HUS), and EEG studies were reviewed and graded. EEG studies are usually ordered when seizures were suspected. RESULTS: A total of 155 newborns met the inclusion criteria. Twenty-six patients had PVL. Nine patients had grade 2 to 3 PVL based on HUS review. EEG was performed on 15 patients with PVL at a mean age of 22 months. More severe PVL grades were significantly associated with worse EEG patterns (P = 0.005). Five patients had DEE-SWAS pattern on EEG, all of whom had grade 2 or 3 PVL. Epilepsy was eventually diagnosed in three infants with PVL. CONCLUSIONS: EEG can help identify important abnormal electrographic patterns in premature infants with PVL early in life; this might give a window of opportunity to intervene early and improve long-term developmental outcomes in this population.


Asunto(s)
Electroencefalografía , Recien Nacido Extremadamente Prematuro , Leucomalacia Periventricular , Humanos , Leucomalacia Periventricular/fisiopatología , Leucomalacia Periventricular/diagnóstico , Estudios Retrospectivos , Masculino , Recién Nacido , Femenino , Lactante , Estudios de Seguimiento
5.
BMC Pediatr ; 24(1): 120, 2024 Feb 14.
Artículo en Inglés | MEDLINE | ID: mdl-38355491

RESUMEN

BACKGROUND: Developmental delays in children are assessed in four basic domains: gross motor, fine motor, social, and language. Early years of life are crucial in a child's development, so it is imperative that parents be aware of developmental milestones to facilitate early diagnosis and treatment in case of a developmental delay. This study assessed parental knowledge, attitude, and practices regarding children's developmental milestones and associated "red flags". METHODS: A cross-sectional study was conducted at the Department of Pediatrics at Liaquat National Hospital, Karachi. 390 parents, who had at least one child under 5 years of age, with no diagnosed developmental delay, were interviewed during outpatient clinic visits. The questionnaire consisted of three components to assess parental knowledge, attitude, and practices. RESULTS: 59% and 54% of parents had poor knowledge of gross and fine motor milestones respectively; In the social domain, 56% of the respondents had inadequate knowledge. 42% had inadequate knowledge of language milestones; 29% of parents strongly agreed that their pediatricians provide satisfactory information regarding red flags of developmental milestones. 60% of parents strongly agreed that their child's developmental delay would be a cause of concern for them. In the case of developmental delay, 55% of parents said they would consult a general pediatrician, 11% preferred a pediatric neurologist, 21% opted for a developmental pediatrician and 13% opted for a family physician. Residence and family systems were found to be associated with language-related milestones with significantly higher odds of knowledge among urban residents than rural ones and a significantly lower likelihood of language milestones knowledge among joint families than nuclear families. Female gender was found to be significantly associated with positive attitude. CONCLUSION: The majority of our respondents showed considerably poor knowledge regarding developmental milestones. This highlights the need to devise ways to educate parents on this subject to enable them to vigilantly monitor their child's developmental status and any associated abnormalities and ultimately facilitate the right course of action.


Asunto(s)
Desarrollo Infantil , Conocimientos, Actitudes y Práctica en Salud , Niño , Femenino , Humanos , Estudios Transversales , Pakistán , Padres , Lactante , Preescolar
6.
Early Hum Dev ; 188: 105918, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38104363

RESUMEN

BACKGROUND: The effects of SARS-CoV-2 gestational exposure on child development remain inconclusive. AIMS: To analyze the effects of SARS-CoV-2 gestational exposure on neurodevelopment until 12 months. STUDY DESIGN: Prospective cohort study conducted in five municipalities in Southeast Brazil from August 2021 to September 2022. SUBJECTS: Infants were recruited from a serological survey performed during neonatal screening and followed up to 12 months old. We included 224 infants exposed to SARS-CoV-2 during pregnancy and 225 non-exposed, according to the serology results of the newborn as well as their mothers and the maternal antenatal RT-PCR results. OUTCOME MEASURES: Developmental assessments were performed at 6 and 12 months using the Survey of Wellbeing of Young Children-Brazilian Version (SWYC-BR). Children with suspected developmental delay (SDD) at 6 and 12 months were considered at high risk for developmental delay (HRDD). Additionally, risk factors associated with SDD were examined. RESULTS: There were 111 children identified with SDD and 52 with HRDD. SARS-CoV-2 gestational exposure was not associated with SDD. Exposure in the first gestational trimester increased SDD risk by 2.15 times compared to the third. Cesarean delivery predicted SDD (OR 1.56; 95%CI 1.01-2.42) and HRDD (OR 1.91; 95%CI 1.04-3.48). Additionally, suspected maternal depression predicted SDD (OR 1.76; 95%CI 1.01-3.10). CONCLUSION: SARS-CoV-2 gestational exposure did not increase the developmental delay risk. However, our findings suggest that the earlier the gestational exposure, the greater the developmental delay risk at 12 months. Cesarean delivery and suspected maternal depression increased the developmental delay risk, independent of virus exposure.


Asunto(s)
COVID-19 , Complicaciones Infecciosas del Embarazo , Lactante , Recién Nacido , Niño , Humanos , Embarazo , Femenino , Preescolar , SARS-CoV-2 , Brasil/epidemiología , Estudios Prospectivos , COVID-19/epidemiología , Factores de Riesgo , Complicaciones Infecciosas del Embarazo/epidemiología
7.
Front Psychol ; 14: 1273591, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38078238

RESUMEN

Background: Undernutrition has severe and lasting consequences on child development. Evidently, the interventions based on the biomedical model with food and direct supplementation have failed to produce the desired outcomes for decades. In light of the established positive effects of psychosocial stimulation on developmental outcomes, we propose that the observed failures relate to not including psychosocial stimulation within the interventions. Here we test whether psychosocial stimulation mediates the association between nutritional status and motor and mental development in a large cohort from Madhya Pradesh, India. Method: Using a correlational design in children below 3 years of age (N = 275; Males = 148, Females = 127) nutritional status was measured through mid-upper arm circumference (MUAC), psychosocial stimulation was assessed with the HOME-inventory, and motor and mental development were assessed with the Developmental Assessment Scales for Indian Infants (DASII). We assessed the effectiveness of 25-week intervention model incorporating psychosocial stimulation on 95 undernourished children in experimental group and 77 in control group. Results: The study found that psychosocial stimulation fully mediated the relationship between nutritional status and the motor development [Effect = 1.03, 95% C.I. (0.19, 2.04), p = 0.05] and mental development [Effect = 0.49, 95% C.I. (0.09, 1.03), p = 0.05] in children under 3 years of age. Nutritional status significantly predicted the psychosocial stimulation to the child (R2 = 0.77). Analyzing the effectiveness of the intervention program revealed significant reduction in the developmental delays in both the motor [t(81) = 2.568, p = 0.012] and mental development [t(81) = 4.506, p = 0.001] of the undernourished children. Conclusion: Findings indicate that nutrition translates into positive developmental outcomes in a child only with the scaffolding effects of psychosocial stimulation primarily received from home. Integrating psychosocial stimulation activities like storytelling, play, art and crafts, puppets, travel etc. in the intervention programs designed to address undernutrition may yield rich dividends in bridging the developmental delays among undernourished children.

8.
Nutr J ; 22(1): 66, 2023 Dec 06.
Artículo en Inglés | MEDLINE | ID: mdl-38053088

RESUMEN

BACKGROUND: Although an association between maternal nutritional intake and developmental delays in children has been demonstrated, the association of the timing of meal intake and development delays remains unclear. We examined the association between breakfast intake frequency before and during pregnancy and developmental delay in children. METHODS: Of the pregnant women who participated in the Tohoku Medical Megabank Project Three-Generation Cohort Study, 7491 answered the required questions and were analyzed. The frequency of breakfast intake from pre- to early pregnancy and from early to mid-pregnancy was classified into four groups: daily, and 5-6, 3-4, and 0-2 times/week. Child developmental delays at age 2 and 3.5 years were assessed using the Ages & Stages Questionnaire, Third Edition. Logistic regression models were constructed to examine the association between breakfast intake frequency in pregnant women and developmental delays in children aged 2 and 3.5 years. RESULTS: The proportion of pregnant women who had breakfast daily was 78.1% in pre- to early pregnancy, and 82.2% in early to mid-pregnancy. The proportion of children with developmental delays was 14.7% and 13.4% at age 2 and 3.5 years, respectively. Compared with the risk in children of women who had breakfast daily from pre- to early pregnancy, children of women who had breakfast 0-2 times/week had a higher risk of developmental delays at 2 years of age: odds ratio (OR) 1.30, (95% confidence interval [CI], 1.02-1.66). The risk of developmental delays at age 2 years increased in the children of women who had breakfast 0-2 times/week in early to mid- pregnancy: OR 1.75 (95% CI, 1.32-2.32). The risk of developmental delays at age 3.5 years did not increase in the children of women who had breakfast 0-2 times/week from pre- to early and early to mid-pregnancy: OR 1.06 (95% CI, 0.81-1.39 and OR 1.15 (95% CI 0.84-1.57), respectively. CONCLUSION: For women with a low frequency of breakfast intake from pre- to mid-pregnancy there was an association with developmental delays in their children at age 2, but not at 3.5 years.


Asunto(s)
Desayuno , Mujeres Embarazadas , Niño , Femenino , Humanos , Embarazo , Preescolar , Estudios de Cohortes , Ingestión de Alimentos , Encuestas y Cuestionarios
9.
J Virol ; 97(10): e0100623, 2023 10 31.
Artículo en Inglés | MEDLINE | ID: mdl-37732785

RESUMEN

IMPORTANCE: Zika virus (ZIKV) infection in pregnant women during the third trimester can cause neurodevelopmental delays and cryptorchidism in children without microcephaly. However, the consequences of congenital ZIKV infection on fertility in these children remain unclear. Here, using an immunocompetent mouse model, we reveal that congenital ZIKV infection can cause hormonal disorders of the hypothalamic-pituitary-gonadal axis, leading to reduced fertility and decreased sexual preference. Our study has for the first time linked the hypothalamus to the reproductive system and social behaviors after ZIKV infection. Although the extent to which these observations in mice translate to humans remains unclear, these findings did suggest that the reproductive health and hormone levels of ZIKV-exposed children should receive more attention to improve their living quality.


Asunto(s)
Complicaciones Infecciosas del Embarazo , Infección por el Virus Zika , Virus Zika , Animales , Niño , Femenino , Humanos , Masculino , Ratones , Embarazo , Fertilidad , Hormonas , Eje Hipotálamico-Pituitario-Gonadal , Microcefalia , Complicaciones Infecciosas del Embarazo/virología , Virus Zika/fisiología , Infección por el Virus Zika/patología
10.
Psychol Sci ; 34(10): 1173-1185, 2023 10.
Artículo en Inglés | MEDLINE | ID: mdl-37733001

RESUMEN

This study examined whether children exposed to adversity would exhibit lower epigenetic age acceleration in the context of improved parenting. Children with developmental delays and externalizing behavior problems (N = 62; Mage = 36.26 months; 70.97% boys, 29.03% girls; 71% Latinx, 22.6% Black) were drawn from a larger randomized controlled trial (RCT), which randomized them to receive Internet-delivered parent-child interaction therapy (iPCIT; n = 30) or community referrals as usual (RAU; n = 32). Epigenetic age acceleration was estimated with the pediatric buccal epigenetic clock, using saliva. Adversity was assessed using parent, family, and neighborhood-level cumulative-risk indicators. Adversity interacted with Time 2 (T2) observations of positive and negative-parenting practices to predict epigenetic age acceleration 1.5 years later, regardless of treatment assignment. Children exposed to more adversity displayed lower epigenetic age acceleration when parents evidenced increased positive (b = -0.15, p = .001) and decreased negative (b = -0.12, p = .01) parenting practices.


Asunto(s)
Responsabilidad Parental , Problema de Conducta , Masculino , Femenino , Niño , Humanos , Preescolar , Lactante , Padres , Relaciones Padres-Hijo , Epigénesis Genética
11.
JMIR Public Health Surveill ; 9: e47315, 2023 08 18.
Artículo en Inglés | MEDLINE | ID: mdl-37489583

RESUMEN

BACKGROUND: Developmental surveillance, conducted routinely worldwide, is fundamental for timely identification of children at risk of developmental delays. It is typically executed by assessing age-appropriate milestone attainment and applying clinical judgment during health supervision visits. Unlike developmental screening and evaluation tools, surveillance typically lacks standardized quantitative measures, and consequently, its interpretation is often qualitative and subjective. OBJECTIVE: Herein, we suggested a novel method for aggregating developmental surveillance assessments into a single score that coherently depicts and monitors child development. We described the procedure for calculating the score and demonstrated its ability to effectively capture known population-level associations. Additionally, we showed that the score can be used to describe longitudinal patterns of development that may facilitate tracking and classifying developmental trajectories of children. METHODS: We described the Developmental Surveillance Score (DSS), a simple-to-use tool that quantifies the age-dependent severity level of a failure at attaining developmental milestones based on the recently introduced Israeli developmental surveillance program. We evaluated the DSS using a nationwide cohort of >1 million Israeli children from birth to 36 months of age, assessed between July 1, 2014, and September 1, 2021. We measured the score's ability to capture known associations between developmental delays and characteristics of the mother and child. Additionally, we computed series of the DSS in consecutive visits to describe a child's longitudinal development and applied cluster analysis to identify distinct patterns of these developmental trajectories. RESULTS: The analyzed cohort included 1,130,005 children. The evaluation of the DSS on subpopulations of the cohort, stratified by known risk factors of developmental delays, revealed expected relations between developmental delay and characteristics of the child and mother, including demographics and obstetrics-related variables. On average, the score was worse for preterm children compared to full-term children and for male children compared to female children, and it was correspondingly worse for lower levels of maternal education. The trajectories of scores in 6 consecutive visits were available for 294,000 children. The clustering of these trajectories revealed 3 main types of developmental patterns that are consistent with clinical experience: children who successfully attain milestones, children who initially tend to fail but improve over time, and children whose failures tend to increase over time. CONCLUSIONS: The suggested score is straightforward to compute in its basic form and can be easily implemented as a web-based tool in its more elaborate form. It highlights known and novel relations between developmental delay and characteristics of the mother and child, demonstrating its potential usefulness for surveillance and research. Additionally, it can monitor the developmental trajectory of a child and characterize it. Future work is needed to calibrate the score vis-a-vis other screening tools, validate it worldwide, and integrate it into the clinical workflow of developmental surveillance.


Asunto(s)
Desarrollo Infantil , Preescolar , Femenino , Humanos , Masculino , Embarazo , Valores de Referencia
12.
Children (Basel) ; 10(7)2023 Jul 13.
Artículo en Inglés | MEDLINE | ID: mdl-37508711

RESUMEN

The first two years of life, including the period from conception to 2 years of age, are very important for a child's growth and development. This study sought to describe the developmental status and the environmental factors that influence it in children aged 6 months to 2 years in urban and rural areas. The research sites were purposively selected: specific health centres in the city of Bandung and West Bandung district were chosen and the study was conducted from November to December 2022. A cross-sectional study was conducted with healthy children aged 6 months to 2 years and their parents, who agreed to participate in the study. Researchers performed developmental tests using the Developmental Pre-screening Questionnaire with classifications for normal developmental test results and developmental delays. During the study, 346 children met the inclusion criteria, resulting in a sample of 164 (47.4%) boys and 182 (52.6%) girls. There were no significant differences among children with developmental delays in urban and rural areas. The factors that influence the possibility of developmental delays in the two research areas were the child's age, exposure to screen time, stimulation, nutritional status, and the use of the mother-child handbook.

13.
BMC Pediatr ; 23(1): 291, 2023 06 15.
Artículo en Inglés | MEDLINE | ID: mdl-37322423

RESUMEN

BACKGROUND: Although the importance of sleep problems has been increasingly emphasized due to the effects on children's development and children's and families' daytime behaviors, physical health, and quality of life, they have been overlooked in clinical practice. However, there have been few studies on the effects of rehabilitation on sleep problems. Therefore, in this study, we investigated the effects of an intensive rehabilitation program on sleep problems in children with developmental delays (DD). METHODS: We included 36 children with DD (30 outpatients, 6 inpatients) and their caregivers who completed all items on the Sleep Disturbance Scale for Children. Of the children with DD, 19 (59.3%) had cerebral palsy (CP) and 13 (40.7%) had DD of non-CP origins, of which 6 (18.8%) had prematurity, 4 (12.5%) had genetic causes, and 3 (9.4%) had an unknown origin. Changes in sleep problems after the intensive rehabilitation program were evaluated using a paired or unpaired t-test, depending on the distribution of the continuous variables. RESULTS: After the intensive rehabilitation program, in 36 children with DD, there was a significant improvement in the difficulty in initiating and maintaining sleep (DIMS) sub-score (p < 0.05). However, there was no significant improvement in the total score or other sub-scores, such as those for sleep breathing disorders (SBD), disorders of arousal (DA), sleep-wake transition disorders (SWTD), disorders of excessive somnolence (DOES), and sleep hyperhidrosis (SH). In the subgroup analysis according to the cause of DD, children with CP had a significant improvement in DIMS and DOES sub-scores (p < 0.05). CONCLUSION: The intensive rehabilitation program, consisting of more than two sessions per day, effectively alleviated sleep problems in children with DD, especially in those with CP. Among the sleep problems, the intensive rehabilitative program was most effective at improving the DIMS. However, further prospective studies with a larger number of patients with DD and a more standardized protocol are necessary to generalize this effect.


Asunto(s)
Parálisis Cerebral , Trastornos del Sueño-Vigilia , Humanos , Niño , Calidad de Vida , Estudios Prospectivos , Encuestas y Cuestionarios , Sueño , Trastornos del Sueño-Vigilia/etiología , Parálisis Cerebral/complicaciones
14.
Soc Psychiatry Psychiatr Epidemiol ; 58(11): 1593-1601, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37269311

RESUMEN

PURPOSE: Studies examining the associations between maternal social relationships and early childhood development have mainly focused on social relationships after childbirth. We aimed to prospectively examine the associations between the transition of maternal social isolation from the prenatal to postnatal period and early childhood development. METHODS: We analyzed data for 6692 mother-child pairs who participated in the Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study. Social isolation in the prenatal and postnatal periods was assessed by the Lubben Social Network Scale-abbreviated version and categorized into four groups: none, prenatal only, postnatal only, and both. The Ages and Stages Questionnaire, Third Edition, which consists of five developmental areas, was used to assess developmental delays in children at 2 and 3.5 years of age. Multiple logistic regression analyses were conducted to examine the associations between maternal social isolation and developmental delays. RESULTS: The prevalence of social isolation in both the prenatal and postnatal periods was 13.1%. Social isolation in both the prenatal and postnatal periods was associated with developmental delays in children at 2 and 3.5 years of age: the multivariate-adjusted odds ratios (95% confidence intervals) were 1.68 (1.39-2.04) and 1.43 (1.17-1.76), respectively. Social isolation in the prenatal period only and social isolation in the postnatal period only were not associated with developmental delays in children at 2 and 3.5 years of age. CONCLUSION: Maternal social isolation in both the prenatal and postnatal periods was associated with an increased risk of developmental delays in early childhood.


Asunto(s)
Desarrollo Infantil , Aislamiento Social , Embarazo , Femenino , Humanos , Preescolar , Estudios de Cohortes , Familia
15.
J Commun Disord ; 104: 106337, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37253298

RESUMEN

INTRODUCTION: This study examines longitudinal changes in communicative behavior of young children with significant cognitive and motor developmental delays (SDD) and determines their individual communicative trajectories. A second focus of this study is the relation of changes in communicative behavior with motor skills. METHODS: Data consists of codes resulting from a self-developed coding scheme used on observations of 23 children in three different settings and responses on a questionnaire. First, group trends were determined to find out whether communication-related variables tend to significantly change over the course of two years. Furthermore, these findings were contrasted with the individual trajectories of the children. Next, the association of initial communicative skills and (the acquisition of) specific motor skills with the change in their communicative functioning was studied. Wilcoxon Signed Ranks and correlational analyses were used to answer the research questions. RESULTS: Out of sixteen different variables related to communicative behavior, ten changed significantly over the course of two years. Children with more focus on prompt on the first datapoint showed a significantly larger increase of signs of functionality. Still, all children showed highly individual trajectories. Children with better motor skills on the first datapoint showed a significantly larger increase in communication rate. CONCLUSIONS: Results show that if a myriad of detailed variables are taken into account children with significant cognitive and motor developmental disabilities do change regarding their communicative functioning, but that they tend to all show unique developmental trajectories. Children with stronger skills in some aspects of communication and motor functioning, can be considered advantaged regarding their communicative development.


Asunto(s)
Desarrollo Infantil , Destreza Motora , Humanos , Niño , Preescolar , Desarrollo Infantil/fisiología , Destreza Motora/fisiología , Comunicación , Cognición
16.
Front Mol Neurosci ; 16: 1116949, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36873107

RESUMEN

Objectives: Galloway-Mowat syndrome-4 (GAMOS4) is a very rare renal-neurological disease caused by TP53RK gene mutations. GAMOS4 is characterized by early-onset nephrotic syndrome, microcephaly, and brain anomalies. To date, only nine GAMOS4 cases with detailed clinical data (caused by eight deleterious variants in TP53RK) have been reported. This study aimed to examine the clinical and genetic characteristics of three unrelated GAMOS4 patients with TP53RK gene compound heterozygous mutations. Methods: Whole-exome sequencing (WES) was used to identify four novel TP53RK variants in three unrelated Chinese children. Clinical characteristics such as biochemical parameters and image findings of patients were also evaluated. Furthermore, four studies of GAMOS4 patients with TP53RK variants were reviewed. In addition, clinical and genetic features were described after a retrospective analysis of clinical symptoms, laboratory data, and genetic test results. Results: The three patients showed facial abnormalities, developmental delays, microcephaly, and aberrant cerebral imaging. Furthermore, patient 1 had slight proteinuria, while patient 2 had epilepsy. However, none of the individuals had nephrotic syndrome, and all were alive for more than 3 years of age. This is the first study to assess four variants in the TP53RK gene (NM_033550.4: c.15_16dup/p.A6Efs*29, c.745A > G/p.R249G, c.185G > A/p.R62H, and c.335A > G/p.Y112C). Conclusion: The clinical characteristics of the three children with TP53RK mutations are significantly different from the known GAMOS4 traits, including early nephrotic syndrome and mortality mainly occurring in the first year of life. This study provides insights into the pathogenic TP53RK gene mutation spectrum and clinical phenotypes of GAMOS4.

17.
Arch Womens Ment Health ; 26(2): 219-226, 2023 04.
Artículo en Inglés | MEDLINE | ID: mdl-36809368

RESUMEN

Although there is some evidence regarding an association between maternal bonding disorder and child development, studies have mainly focused on development during the period of infancy. We aimed to examine the associations between maternal postnatal bonding disorder and developmental delays in children beyond 2 years of age. We analyzed data from 8380 mother-child pairs who participated in the Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study. Maternal bonding disorder was defined as Mother-to-Infant Bonding Scale score of ≥5 at 1 month after delivery. The Ages & Stages Questionnaires, Third Edition, which consists of five developmental areas, was used to assess developmental delays in children at 2 and 3.5 years of age. Multiple logistic regression analyses were conducted to examine the associations between postnatal bonding disorder and developmental delays after adjustment for age, education, income, parity, feelings toward pregnancy, postnatal depressive symptoms, child's sex, preterm birth, and birth defects. Bonding disorder was associated with developmental delays in children at 2 and 3.5 years of age: the odds ratios (95% confidence intervals) were 1.55 (1.32-1.83) and 1.60 (1.34-1.90), respectively. Bonding disorder was associated with delay in communication only at 3.5 years of age. Bonding disorder was associated with delay in gross motor, fine motor, and problem solving, but not delay in the personal-social domain, at 2 and 3.5 years of age. In conclusion, maternal bonding disorder 1 month after delivery was associated with an increased risk of developmental delays in children beyond 2 years of age.


Asunto(s)
Nacimiento Prematuro , Femenino , Lactante , Embarazo , Humanos , Recién Nacido , Preescolar , Estudios de Cohortes , Desarrollo Infantil , Madres
18.
Appl Neuropsychol Child ; : 1-9, 2023 Jan 11.
Artículo en Inglés | MEDLINE | ID: mdl-36630258

RESUMEN

BACKGROUND: Every child is unique, but development tends to occur in predictable steps and stages. The early identification of infants who face developmental delays is critical, boosting the use of screening tools to determine risks for delays. The city of Rio de Janeiro conducted a large-scale assessment of children who were enrolled in educational facilities using the Ages & Stages Questionnaires: Social-Emotional (ASQ:SE). OBJECTIVES: We examined the internal structure of the ASQ:SE and its most discriminative items of risks of delays in development among 12- to 60-month-old children. The trajectory of the discrimination parameter of eight anchor items was used to check how well they inform the risk of social-emotional competence delays throughout development. METHODS: Data from 79,332 children (1-5 years) were analyzed via Samejima Graded Response model of Item Response Theory (IRT). The discrimination (a) and threshold (b) parameters were computed, and errors were achieved via maximum likelihood. Data/codes are available at https://osf.io/by6sf/. RESULTS: (a) Item Response Theory analyses supported the unidimensionality of data via the root mean square error of approximation and standardized root mean square residual results (RMSEA). (b) The lack of voluntary interest was the most discriminative risk behavior in the first 5 years. (c) Lack of interest was the most persistent risk behavior. (d) Difficulty making eye contact was nearly as informative as lack of interest. CONCLUSION: Lack of voluntary interest in things should be considered a critical risk-related behavior, and making eye contact is a vital aspect of typical development. Both behaviors may be predictors of children's delays.MAIN OUTCOMESThe ASQ:SE is a valid and reliable tool to measure child development.The internal structure of the ASQ:SE is well-fitted with a unidimensional solution.A child's age is a vital aspect of the discrimination parameter of the IRT model.Lack of interest in things and difficulty making eye contact are critical risk-related behaviors.

19.
J Intellect Disabil ; 27(4): 847-870, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-35648732

RESUMEN

The Attachment and Biobehavioral Catchup intervention potentially offsets psychosocial risks facing dyads in which children have intellectual disability or developmental delays. In this single-case multiple-baseline study the efficacy of this intervention was tested across three such South African families. Maternal sensitivity, attachment security, and child affect regulation were measured weekly during a baseline and intervention period, using the Ainsworth Maternal Sensitivity Scales, Attachment Q-sort and salivary cortisol, respectively. Furthermore, post-intervention interviews invited parents' and intervenors' evaluations of the intervention. Visual analysis broadly indicated improvement in maternal sensitivity and attachment security across subjects over time following the introduction of the intervention, although randomisation tests were not statistically significant. Effects on affect regulation were not clearly observed and may have been influenced by case-specific variables. Parent-participants and intervenors also identified particularly helpful contributions from the intervention. Findings underscore the importance of individual-level effects evaluation, especially when implementing interventions outside the original population.


Asunto(s)
Hidrocortisona , Discapacidad Intelectual , Humanos , Niño , Lactante , Preescolar , Apego a Objetos , Padres/psicología , Responsabilidad Parental/psicología
20.
Augment Altern Commun ; 39(2): 84-95, 2023 06.
Artículo en Inglés | MEDLINE | ID: mdl-36399357

RESUMEN

The communicative behavior of young children with significant cognitive and motor developmental delays is generally considered to be limited, idiosyncratic and non-intentional. At present, changes between and within children over time regarding their communicative behavior are hard to detect. This article describes an exploratory observational study that draws on data from the first data point of 38 children who are participating in a longitudinal project on the developmental trajectories of children with significant cognitive and motor developmental delays. The aims of this study were to (a) describe the participants' communicative behavior in detail with communication-related variables that reflect differences across individuals, (b) create summarizing variables and (c) explore whether subgroups of children can be detected. A self-developed coding scheme and descriptive statistics combined with correlational analyses were used, followed by a principal component analysis and visual inspection of the outcome of this analysis. The within-group differences related to communicative behavior was characterized using 16 variables. Based on these variables, three overarching components were formulated: communication proficiency, Expressions of Discomfort and Rejection and Differentiation According to Focus. All participating children were found to be unique in terms of their component scores and the relationship among their component scores.


Asunto(s)
Equipos de Comunicación para Personas con Discapacidad , Trastornos de la Comunicación , Trastornos de la Destreza Motora , Humanos , Niño , Preescolar , Comunicación , Cognición
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