Social visual attentional engagement and memory in Phelan-McDermid syndrome and autism spectrum disorder: a pilot eye tracking study

Background The current study used eye tracking to investigate attention and recognition memory in Phelan-McDermid syndrome (PMS), a rare genetic disorder characterized by intellectual disability, motor delays, and a high likelihood of comorbid autism spectrum disorder (ASD). Social deficits represent a core feature of ASD, including decreased propensity to orient to or show preference for social stimuli. Methods We used a visual paired-comparison task with both social and non-social images, assessing looking behavior to a novel image versus a previously viewed familiar image to characterize social attention and recognition memory in PMS (n = 22), idiopathic ASD (iASD, n = 38), and typically developing (TD) controls (n = 26). The idiopathic ASD cohort was divided into subgroups with intellectual disabilities (ID; developmental quotient < 70) and without (developmental quotient > 70) and the PMS group into those with and without a co-morbid ASD diagnosis. Results On measures of attention, the PMS group with a comorbid ASD diagnosis spent less time viewing the social images compared to non-social images; the rate of looking back and forth between images was lowest in the iASD with ID group. Furthermore, while all groups demonstrated intact recognition memory when novel non-social stimuli were initially presented (pre-switch), participants with PMS showed no preference during the post-switch memory presentation. In iASD, the group without ID, but not the group with ID, showed a novelty preference for social stimuli. Across indices, individuals with PMS and ASD performed more similarly to PMS without ASD and less similarly to the iASD group. Conclusion These findings demonstrate further evidence of differences in attention and memory for social stimuli in ASD and provide contrasts between iASD and PMS.

Association of Comorbid with Developmental Quotient in Down Syndrome Children

BACKGROUND: Down syndrome (DS) is the most common genetic disorder in children. Children with DS tend to have various comorbid due to developmental abnormalities of chromosome 21, such as congenital heart defects, hearing loss, otitis media, eye disorders, obstructive sleep apnea, thyroid hormone disorders, gastrointestinal atresia, hip joint dislocation, leukemia, and Hirschsprung’s disease. Moreover, they also show cognitive impairments in concentration, communication, memory, and the ability to carry out tasks. Caput Scale/Clinical Adaptive Test/Clinical Linguistic and Auditory Milestone Scale (CAT-CLAMS) is one of the developmental assessment instruments to screen for cognitive disorders. AIM: Hereby, we aimed to find the association of comorbid with developmental quotient in DS children. Data were obtained from medical record with sample age 0–18 years and suffering from DS. METHODS: This was observational analytic study with cross-sectional approach, conducted in DS children age 0–18 years who were treated in Sanglah Hospital in 2018. Characteristic data and comorbid were obtained from medical record, meanwhile, development status was assessed using Caput Scale/CAT-CLAMS. Chi-square was applied to determine the association between comorbidities and development quotient (DQ) in DS children. RESULTS: A total of 32 children with DS were treated in Sanglah Hospital during 2018 with median age was 2 years old and dominated by female patient (71.9%). Several comorbidities were found such as endocrine disorders in 27 children (84.3%), congenital heart disease (CHD) in 16 children (50%), and other comorbid including microcephaly, congenital cataract, palatoschizis, gastrointestinal defects, and congenital talipes equinovarus in 13 children (40.4%). The most common endocrine disorders was congenital hypothyroidism (81.25%), while the most common CHD was patent ductus arteriosus (25%). Bivariate Chi-square analysis showed significant association between comorbid and DQ (PR = 1.4 [95% CI 0.95–1.97], p = 0.03). CONCLUSION: We found an association between comorbidities and DQ in DS children.

Evaluation of MRI Features and Neurodevelopmental Outcomes for Prenatally Diagnosed Periventricular Pseudocysts

Objectives: This study aimed to evaluate the morphologic features and neurodevelopmental outcomes of individuals prenatally diagnosed with a periventricular pseudocyst (PVPC).Methods: Pregnant women with a fetus prenatally diagnosed with PVPC by MRI were enrolled in this retrospective study. The fetuses with PVPCs were divided into group 1 (isolated PVPC) and group 2 (PVPC with additional findings). The surviving infants underwent brain MRI examinations and the Gesell Developmental Scale (GDS) test after birth. Independent sample t-tests were used to compare the differences in the developmental quotient (DQ) between group 1 and group 2. We also analyzed the correlations among the DQ, location (unilateral/bilateral), size (diameter), and number (single/multiple) of the PVPCs in group 1 using Lasso regression.Results: In total, 131 infants (group 1: 78 infants, group 2: 53 infants) underwent MRI examinations after birth, and 97 infants (group 1: 59 infants, group 2: 38 infants) underwent the GDS test. Upon follow-up, the sizes of the cysts had become smaller or disappeared after birth. The average DQ in group 2 was lower than that in group 1 (all with p &lt; 0.001). In group 1, the location (unilateral/bilateral), size (diameter), and number (single/multiple) of the PVPC did not affect the DQ.Conclusions: The PVPCs became smaller or disappeared after birth. Isolated PVPCs usually have a normal presentation after birth regardless of the location, number, or size. For PVPCs with additional findings, the neurodevelopmental outcomes were inferior to those in isolated PVPCs.

Treatment of Congenital Hypothyroidism: Comparison Between L-Thyroxine Oral Solution and Tablet Formulations up to 3 years of age

Objective. Oral solution and tablet formulations of Levo-Thyroxine (L-T4) are both used in the treatment of Congenital Hypothyroidism (CH). However, few studies and with a limited follow-up period have been published comparing these two formulations in children. Design. The aim of this multicenter study was to compare the effectiveness of L-T4 oral solution (with ethanol as excipient) and tablet formulation in children with CH up to 3 years of age. Methods. Children diagnosed with CH between 2006 and 2015 were enrolled and divided into two groups according to the L-T4 formulation used: solution in drops (Group D) or tablets (Group T). Auxological parameters, TSH and FT4 values and L-T4 dose were collected at diagnosis and at 15 days, 1, 3, 6, 12, 24 and 36 months of treatment. The Developmental Quotient at 1 and 3 years of age was evaluated using Griffiths’ Scale. Results. 254 children were enrolled. 117 were treated with solution and 137 with tablets. Auxological parameters, dose and thyroid function values at diagnosis, 3, 6, 12, 24, 36 months were not significantly different. TSH at 15 days (p=0.002) and 1 month (p=0.009) was significantly reduced in group D. At 2-year follow-up, median TSH was significantly lower in group T (p=0.03). No statistical difference was detected between the median Developmental Quotient, however group D showed lower values in the language subscale at 12 months and in eye-hand coordination at 36 months. Conclusions. Both therapeutic strategies are effective on treatment of CH. A higher risk of overtreatment in the first months of therapy seems to be associated with oral solution L-T4; therefore, a different strategy should be considered when starting and adjusting the dose. No negative effects in cognitive development were observed. The data obtained are encouraging but long-term follow-up is needed.

Early aggressive nutrition at 22–23 weeks gestational age improves weight gain and does not worsen neurological prognosis

The effect of early aggressive nutrition (EAN) on extremely low birth weight (ELBW) infants is unknown. The purpose of this study was to investigate the effect of EAN on ELBW infants, especially premature neonates of 22–23 weeks gestational age (GA22–23-week). Twenty-eight preterm infants of less than 26 weeks were divided into two groups (GA22–23-week group, 10 infants; GA24–25-week group, 18 infants) and compared. Each preterm infant received more than 3.0 g/kg/day of amino acids in the first day after birth and 1.0 g/kg/day of lipid emulsion from the next day. The GA22–23-week group had significantly smaller head circumference (20.4 ± 1.0 cm vs. 22.2 ± 1.4 cm, P = 0.002) and body weight at birth (539 ± 68 g vs. 697 ± 155 g, P = 0.003), but there were no differences in early postnatal weight loss (10.4% ± 6.3% vs. 8.1% ± 6.3%, P = 0.37), and body weight at 37 weeks postmenstrual age (1906 ± 321 g vs. 2081 ± 379 g, P = 0.17). Blood urea nitrogen levels were higher in the GA22–23-week group (59.7 ± 16.6 mg/dl vs. 45.0 ± 10.8 mg/dl, P = 0.004), but there were no differences in direct-bilirubin, bile acids, and ammonia levels. After discharge, there was no significant difference in developmental quotient at 2 years of age (71.3 ± 15.1 vs. 78.1 ± 22.6, P = 0.20) between the two groups. Conclusion: We suggest that EAN reduces the rate of early postnatal weight loss in ELBW infants and contributes to weight gain until full term age.

Screen Time and Autism: Current Situation and Risk Factors for Screen Time Among Pre-school Children With ASD

Objective: To investigate the current status of screen time in children with ASD, its correlation with autistic symptoms and developmental quotient (DQ), and the factors affecting screen time.Method: One hundred ninety-three Chinese children with ASD were recruited. We collected the demographic and screen time data using a questionnaire. The ASD core symptoms and developmental quotient (DQ) were measured by the Autism Behavior Checklist (ABC), Childhood Autism Rating Scale (CARS), Autism Diagnostic Observation Schedule-Second Edition (ADOS-2), Griffiths Development Scales-Chinese Language Edition (GDS-C), and Chinese Children's Parent-Child Relationship Questionnaire (CPCIS). Then, we analyzed the correlations between the screen time of children with ASD and the ABC, CARS, ADOS, GDS-C DQs, and CPCIS scores. Linear regression was used to analyze the risk factors that affect screen time.Results: The children's average daily screen time was 2.64 ± 2.24 h. Forty eight percent children were exposed to two or more types of electronic devices. Their favorite activity of screen time was watching cartoons. Only 34% children spent screen time accompanied by parents and with communication. 50.26% children had no screen time before sleeping. The screen time of children with ASD had a negative correlation with the GDS-C CQ (r = −0.234, P = 0.001) and the CPCIS score (r = −0.180, P = 0.012) and a positive correlation with the CARS score (r = 0.192, P = 0.009). A low father's education level (P = 0.010), less restriction of the child's screen time by the guardian (P = 0.001), greater caregiver screen time (P &lt; 0.001), the use of the screen as a tool for child rearing (P = 0.001), and the child's ownership of independent electronic equipment (P = 0.027) are risk factors for long screen time in children with ASD.Conclusion: The screen time of children with ASD in China is higher than the recommended standard, and the current situation is serious. The screen time of ASD children is related to their autism symptoms, DQ and parent-child interaction. Low paternal education levels, less restriction of children's screen time by guardians, greater guardian screen time, the use of screens in child rearing, and children's ownership of independent electronic equipment can lead to an increase in children's screen time. These findings may have implications for family intervention strategies.

Perbedaan Skor Developmental Quotient Menggunakan Cognitive Adaptive Test/Clinical Linguistic Auditory Milestone Scale pada Anak Stunting di Surakarta

Latar belakang. Anak stunting berisiko mengalami gangguan perkembangan. CAT/CLAMS merupakan alat skrining gangguan perkembangan yang efektif dan akurat mendeteksi keterlambatan kognitif global dan bahasa. Tujuan. Menganalisis perbedaan skor DQ anak stunting dan tidak stunting menggunakan CAT/CLAMS.Metode. Penelitian deskriptif observasional dengan desain studi potong lintang yang dilakukan di beberapa puskesmas dan posyandu di Surakarta Agustus 2018-Mei 2019 terhadap anak usia 3-36 bulan dengan kriteria inklusi dan eksklusi. Hasil penelitian dikatakan bermakna jika nilai p<0,05.Hasil. Penelitian melibatkan 120 anak dengan rerata umur 19,7 + 9,49 bulan, terdiri dari 20% anak stunting dan 80% tidak stunting. Skor CAT pada anak dengan stunting rata-rata 93,15+5,24 dan tidak stunting 94,37+5,89, p=0,203 (p>0,05). Skor CLAMS pada anak stunting rata-rata 92,98+6,32 dan tidak stunting 92,76+6,61, p=0,933 (p>0,05) Skor DQ pada anak stunting rata-rata 93,06+5,44 dan tidak stunting 93,57+5,84, dengan nilai p=0,539 (p>0,05). Kesimpulan. Tidak terdapat perbedaan yang signifikan pada skor DQ anak stunting dna tidak stunting menggunakan CAT/CLAMS.

Congenital cytomegalovirus infection presenting as cerebral palsy

A 9 month old boy presented with history of delayed attainment of milestones. He was born to a primigravida mother, with an uneventful perinatal period, but had a low birth weight (2.1 kg) for gestational age. There was no history of seizures, abnormal movements, loss of previously gained milestones or prior sibling deaths. On examination, he had severe microcephaly, failure to thrive and hepatosplenomegaly. Neurological examination revealed severe axial hypotonia and spastic quadriplegia with brisk deep tendon reflexes and intermittent scissoring of lower limbs. Fundus examination and hearing evaluation were normal. His current developmental age was 4 months and developmental quotient was 30.

Effects of ETV and VPS on cognitive impairment in infants with congenital hydrocephalus: A retrospective study

This study aims to investigate the postoperative cognitive function changes of infants who underwent endoscopic third ventriculostomy (ETV) or ventriculoperitoneal shunt (VPS) for the treatment of congenital hydrocephalus. Data of 70 hydrocephalus infants and children were retrospectively analyzed. Among these patients, 20 patients underwent ETV, 27 patients underwent VPS, and 23 patients did not undergo any operation (controls). All patients were routinely cared after discharge. The Gecell Developmental Diagnostic Scale was filled for all patients at 2 weeks, 2 months, and 6 months after diagnosis. A total of 20 patients in the ETV group were followed up for 6 months. Among these patients, the clinical symptoms of 18 patients significantly improved. Results determined at 6 months after surgery in the ETV group was statistically significant, compared with the control group ( P < 0.05). Results determined at 2 and 6 months after surgery in the VPS group were statistically significant, compared with the control group ( P < 0.05). Developmental quotient (DQ) values in these two operation groups increased after the operation ( P < 0.01), and the differences were statistically significant. ETV and VPS can improve the cognitive function of infants with hydrocephalus. Improvement of cognitive function by VPS is more significant for infants.