Jaberi-Elahi syndrome is an extremely rare genetic disease caused by pathogenic variants in GTPBP2. The core symptoms of this disease are intellectual disability, motor development delay, abnormal reflexes, skeletal abnormalities, and visual impairment. In this study, we describe a three-year-old girl with a novel homozygous variant in GTPBP2 and a phenotype overlapping with Jaberi-Elahi syndrome. This variant (NM_019096.5:c.1289T > C, p.Leu430Pro) was identified by Whole Exome Sequencing and confirmed by Sanger sequencing although remains classified as VUS based on ACMG criteria. The proband demonstrated motor and intellectual developmental delay, muscle weakness, language disorder, facial dysmorphism, and poor growth. Hitherto, twenty-seven individuals with Jaberi-Elahi syndrome have been reported in the literature. This study, describes a review of the symptoms related to the Jaberi-Elahi syndrome. A large numbers of patients manifest motor development delay (26/28), sparse hair (26/28), and speech disorder (24/28). Moreover, a significant fraction of patients suffer from intellectual disability (23/28), hypotonia (23/28), skeletal problems (23/28), and visual impairment (18/28). In spite of previous patients, the proband in this study did not exhibit any skeletal abnormalities. In summary, we present evidence implicating a novel missense variant in Jaberi-Elahi syndrome, expanding and refining the genetic spectrum of this condition.

BACKGROUND: Video-based automatic motion analysis has been employed to identify infant motor development delays. To overcome the limitations of lab-recorded images and training datasets, this study aimed to develop an artificial intelligence (AI) model using videos taken by mobile phone to assess infants\' motor skills.
METHODS: A total of 270 videos of 41 high-risk infants were taken by parents using a mobile device. Based on the Pull to Sit (PTS) levels from the Hammersmith Motor Evaluation, we set motor skills assessments. The videos included 84 level 0, 106 level 1, and 80 level 3 recordings. We used whole-body pose estimation and three-dimensional transformation with a fuzzy-based approach to develop an AI model. The model was trained with two types of vectors: whole-body skeleton and key points with domain knowledge.
RESULTS: The average accuracies of the whole-body skeleton and key point models for level 0 were 77.667% and 88.062%, respectively. The Area Under the ROC curve (AUC) of the whole-body skeleton and key point models for level 3 were 96.049% and 94.333% respectively.
CONCLUSIONS: An AI model with minimal environmental restrictions can provide a family-centered developmental delay screen and enable the remote monitoring of infants requiring intervention.

Children with severe congenital heart disease (CHD) are a group of children at risk for neurodevelopmental impairments. Motor development is the first domain to show a delay during the first year of life and may significantly contribute to parental concerns, stress, and difficulties in early child-parent attachment. Thus, the aim of the study was to better understand the wishes and concerns of parents of children with CHD and explore their experience of their children\'s neuromotor development in the first year of life.
In this qualitative study, fourteen families were recruited. Their children were aged 1-3 years and had undergone open heart surgery within the first 6 months of life. Semi-structured interviews were audio-recorded and transcribed. The data was explored within an expert group, and a qualitative content analysis was conducted using VERBI MAXQDA software 2020. The study was conducted in accordance with the COREQ checklist.
Parents of children with CHD reported several burdens and needs. Parental burdens concerned the child\'s motor development, their own physical and psychological strain, and difficulties in communication with healthcare professionals. The needs, parents reported included supporting their child\'s motor development, a medical coordinator, and better communication between healthcare professionals and parents. During the first phase of their children\'s illness, parents underwent a dynamic transitional phase and expressed the need to rely on themselves, to trust their children\'s abilities, and to regain self-determination in order to strengthen their self-confidence.
It is essential to involve parents of children with CHD at an early stage of decision-making. Parents are experts in their children and appreciate medical information provided by healthcare professionals. Interprofessional teamwork, partnering with parents, and continuous support are crucial to providing the best possible care for children and their families. Family-centred early motor intervention for CHD children might counteract the effect of parental overprotection and improve children\'s motor development and thus strengthen child-parent interaction. In future work, we aim to evaluate a family-centred early motor intervention for children with CHD developed on the basis of this qualitative study.
Not applicable.

BACKGROUND: Most patients with cerebral palsy (CP) do not respond to physical therapy due to deterioration in their nutritional status, secondary to gastrointestinal disorders and the catabolic state of the disease itself. However, basic treatments only contemplate the energy requirements and do not consider supplementation with glutamine, zinc, selenium, colecalciferol, spirulina, omega 3 or even vegetal proteins.
OBJECTIVE: In this study, we determined the effect of using a nutritional support system (NSS): diet and supplements, on the gross motor function in children with CP with spastic diparesic and Gross Motor Function Classification System III (GMFCS III).
METHODS: An exploratory study was performed. Thirty patients (from 4 to 12 years old) were randomly assigned to: (1) dietary surveillance (FG), (2) deworming and WHO diet (CG), or (3) deworming and the NSS (IG). Gross motor function was evaluated using the gross motor function measure (GMFM) scale.
RESULTS: The IG-treated group presented a significant improvement in standing and walking parameters analyzed in the GMFM compared with FG and CG groups. Fifty percent of the IG-treated patients managed to walk, while in the other groups, no patients were able to walk.
CONCLUSIONS: The NSS used in the present work improves gross motor function and promotes walking in patients with CP.

Despite a number of studies on the risk factors of developmental delay (DD) in children conducted in developed countries, Polish data are scarce, which hinder an early diagnosis and initiation of prevention/control measures. Objective: To assess selected risk factors of DD in infants. A case-control survey was conducted in 2017⁻2018 on 50 infants (≤1 year old) with DD and 104 healthy controls from three outpatient clinics in Szczecin, Poland. Data were collected using an anonymous questionnaire distributed among mothers. The most common risk factors in infants with DD were: Caesarian section (68%), infections (46%), and chronic diseases during pregnancy (48%). DD was significantly correlated with maternal infections and chronic diseases during pregnancy (both: p < 0.001), caesarian section (p < 0.001), preterm birth (p = 0.004), birth weight <2500 g (p = 0.03), Apgar score ≤7 (p < 0.01), prolonged hyperbilirubinemia (p < 0.001), and no breast-feeding (p = 0.04). This study reinforces multiple etiologies of DD. Preventive strategies regarding DD in Polish infants should focus on the pre/peri/postnatal risk factors identified in this study. Strategies that prevent and control such risk factors and those on early detection and intervention in high-risk infants are highly recommended.