Mental Delay Research Articles

Genetic analysis of a child with Malan syndrome

To explore the genetic basis of a child with mental retardation and developmental delay. A child who had attended the genetic clinic of Linyi People's Hospital from October 2023 to April 2024 was selected as the study subject. Intelligence and development were assessed with simplified Peabody scale. Electroencephalogram and imaging data were collected. Peripheral blood samples of the child and her parents were collected for the screening of genetic metabolic diseases, chromosomal karyotyping, and trio-whole genome sequencing (trio-WGS) analysis. Candidate variant was verified by Sanger sequencing, and RNAseq was carried out to verify the alternative splicing due to the candidate variant. This study has been approved by the Medical Ethics Committee of Linyi People's Hospital (No. YX200083). The patient was an 8-year-and-11-month-old girl. Both of her parents had normal phenotypes. The child was assessed by the simplified Peabody scale as having intellectual disability and developmental delay. MRI showed no definite abnormal signals within the brain parenchyma, and electroencephalogram was normal. Screening of genetic metabolic diseases showed no obvious abnormality. Chromosomal karyotype was normal. Trio-WGS has detected a c.697+1G>A variant in the intron 4 of the NFIX gene, along with 9 other variants within eight genes. The c.697+1G>A variant may cause abnormal splicing of the NFIX gene transcript. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.697+1G>A variant was predicted to be pathogenic (PVS1+PS2+PM2_Supporting), while the evidence for pathogenicity of the other 9 variants was insufficient. The novel de novo c.697+1G>A variant of the NFIX gene probably underlay the pathogenesis of the child, which may have caused the disease by leading to abnormal splicing.

PSİXİ İNKİŞAF LƏNGİMƏSİNİN ƏSAS XARAKTERİSTİKASI

Mental development delay is being studied both as a special and a general pedagogical is¬sue in the country. It is a complex problem with various causes, clinical symptoms, and psychological and pedagogical manifestations. Therefore, in the period of educational reforms, comprehensive research on mental development delay in accordance with the "Law on Special Education" is highly relevant and necessary. Over the past two decades, the statistics on changes in children's psycho-emotional development have increased tenfold. According to this data, delays in speech development hinder cognitive development (leading to mental-speech developmental delays), or conversely, congenital mental and neurological conditions cause speech development issues.

Ocular and systemic manifestations of Joubert syndrome: A case report

Joubert syndrome (JS) is a group of rare disorders that stem from defects in sensory organelle, the primary cilia. Affected patients often present with disorders affecting multiple systems, including the brain, eye, and kidneys. Oculomotor apraxia is the most frequent ocular manifestation (80%), followed by strabismus (74%) and nystagmus (72%). A minority of patients also present with ptosis (43%), chorioretinal coloboma (30%), and optic nerve atrophy (22%). Common symptoms include breathing abnormalities, mental developmental delays, loss of voluntary muscle coordination, and abnormal eye movements, with diagnostic “molar tooth” sign observed by magnetic resonance imaging of the midbrain. Hepatic and renal function need to be monitored. Delayed diagnosis is usually related to its variable, nonspecific presentation. Awareness of the characteristic clinical and radiological findings in JS will help in early diagnosis, appropriate counseling, and proper rehabilitation.

Mucopolysaccharidosis Type I (Hurler – Scheie Syndrome): Case Report

Background. Mucopolysaccharidosis type I (MPS I) is an inherited disease caused by pathogenic variants in the IDUA gene, which encodes the lysosomal enzyme alpha-L-iduronidase. This clinical case demonstrates the importance of diagnosing rare diseases when patients have phenotypic features indicating hereditary pathology presence. Phenotype changes can be so-called “red flag” that helps specialists suspect and diagnose lysosomal storage diseases. Clinical case description. The patient was observed with delayed psychomotor development; she also had hepatomegaly and on auscultation of the heart there was a functional systolic murmur above the apex and in the Botkin–Erb point on heart auscultation. Coarse “garholoid” facial features attracted attention at external examination: large nose, wide sunken nose bridge, macroglossia, thick lips, synophrysis, scaphocephaly, wide chest, and flat-valgus feet. Echocardiography has revealed mitral valve insufficiency and hardened valve leaflets. Ophthalmologist examination: hypermetropic astigmatism. Psychiatrist examination: mental and speech development delay. Enzymatic diagnostics: significant decrease in alpha-Liduronidase activity. No further examinations were carried out due to the onset of the COVID-19 epidemic and parents' doubts about the diagnosis. The patient was readmitted to the hospital at the age of 6 years due to aggravation of her condition. A molecular genetic study has revealed two pathogenic variants in the IDUA gene. Diagnosis of MPS I was established according to the clinical data, results of biochemical and molecular genetic studies. Conclusion. This clinical case demonstrates the classic course of MPS I with typical phenotypic signs and lesions in various organs and systems. The presented case demonstrates the importance of professional vigilance among doctors of various specialties regarding orphan diseases.

Development of new NGLY1 assay systems - toward developing an early screening method for NGLY1 deficiency.

Cytosolic peptide: N-glycanase (PNGase/NGLY1 in mammals) is an amidase (EC:3.5.1.52) widely conserved in eukaryotes. It catalyzes the removal of N-glycans on glycoproteins, converting N-glycosylated Asn into Asp residues. This enzyme also plays a role in the quality control system for nascent glycoproteins. Since the identification of a patient with an autosomal recessive genetic disorder caused by NGLY1 gene dysfunction, known as NGLY1 deficiency or NGLY1 congenital disorder of deglycosylation (OMIM: 615273), in 2012, more than 100 cases have been reported worldwide. NGLY1 deficiency is characterized by a wide array of symptoms, such as global mental delay, intellectual disability, abnormal electroencephalography findings, seizure, movement disorder, hypolacrima or alacrima, and liver dysfunction. Unfortunately, no effective therapeutic treatments for this disease have been established. However, administration of adeno-associated virus 9 (AAV9) vector harboring human NGLY1 gene to an NGLY1-deficient rat model (Ngly1-/- rat) by intracerebroventricular injection was found to drastically improve motor function defects. This observation indicated that early therapeutic intervention could alleviate various symptoms originating from central nervous system dysfunction in this disease. Therefore, there is a keen interest in the development of facile diagnostic methods for NGLY1 deficiency. This review summarizes the history of assay development for PNGase/NGLY1 activity, as well as the recent progress in the development of novel plate-based assay systems for NGLY1, and also discusses future perspectives.

Psychology and psychopathology of overvalue hobby schoolshooing ideas. The case of Katerina and Yakov

The article is devoted to the analysis of the phenomenon of extremely valuable passion for the ideas of school shooting (mass shootings in educational institutions). The case of 16-year-old Katerina and her 18-year-old friend Yakov, who were referred to psychiatrists after discovering preparations to commit a crime and activity in searching for information on the Internet about school shooting, is described. Since childhood, Katerina has been under the care of psychiatrists for mental, intellectual and speech development delays. She has been on disability since the age of 18 and has a history of playing games simulating murder and violence. The article examines the psychopathological and psychological factors that contributed to the formation of an extremely valuable passion for the ideas of school shooting among the surveyed. The article highlights the lack of seriousness and lack of concern displayed by Katerina and Yakov towards the issue of school shootings. Their tendency to joke about this topic and express sympathy for the perpetrators is also highlighted. The emphasis is placed on the careless, frivolous attitude of Katerina and Yakov to the problem of mass murders in schools, their tendency to joke about these topics and show sympathy for the killers. It is concluded that “understanding” the feelings of school shooters, the infantile desire to make something “cool” out of any life event, create a meme, laugh at something that is not customary to laugh at (“ethical inversion”) should be recognized as fertile ground for the formation extremely valuable passion for the ideas of school shooting, without the destruction of which it is impossible to cope with future tragedies in educational institutions.

Building resilience in families experiencing homelessness through integration of health, parenting and child development programs.

Children who experience homelessness are vulnerable to mental health problems, developmental delays and lower academic achievement. Research suggests that parental health literacy, sensitive parenting behaviour and child self-regulation are modifiable mechanisms that might enhance children's resilience to adversities associated with homelessness, yet empirical evidence on implementing such interventions in shelter settings is limited. Through a coordinated academic-community partnership, this study aimed to examine the (1) feasibility of conducting an integrated health approach in shelter settings and (2) the effectiveness of separate interventions on child and parent outcomes. Results are discussed in terms of best practices in shelter settings and building resilience in families experiencing homelessness with young children.

Clinical features and genetic analysis of 17 Chinese pedigrees affected with X-linked intellectual disability

To analyze the clinical features and genetic etiology of 17 Chinese pedigrees affected with X-linked intellectual disability (XLID). Seventeen pedigrees affected with unexplained intellectual disability which had presented at Henan Provincial People's Hospital from May 2021 to May 2023 were selected as the study subjects. Clinical data of the probands and their pedigree members were collected. Trio-whole exome sequencing (Trio-WES), Sanger sequencing and X chromosome inactivation (XCI) analysis were carried out. Pathogenicity of candidate variants was predicted based on the guidelines from the American College of Medical Genetics and Genomics and co-segregation analysis. The 17 probands, including 9 males and 8 females with an age ranging from 0.6 to 8 years old, had all shown mental retardation and developmental delay. Fourteen variants were detected by genetic testing, which included 4 pathogenic variants (MECP2: c.502C>T, MECP2: c.916C>T/c.806delG, IQSEC2: c.1417G>T), 4 likely pathogenic variants (MECP2: c.1157_1197del/c.925C>T, KDM5C: c.2128A>T, SLC6A8: c.1631C>T) and 6 variants of uncertain significance (KLHL15: c.26G>C, PAK3: c.970A>G/c.1520G>A, GRIA3: c.2153C>G, TAF1: c.2233T>G, HUWE1: c.10301T>A). The PAK3: c.970A>G, GRIA3: c.2153C>G and TAF1: c.2233T>G variants were considered as the genetic etiology for pedigrees 12, 14 and 15 by co-segregation analysis, respectively. The proband of pedigree 13 was found to have non-random XCI (81:19). Therefore, the PAK3: c.1520G>A variant may underlie its pathogenesis. Trio-WES has attained genetic diagnosis for the 17 XLID pedigrees. Sanger sequencing and XCI assay can provide auxiliary tests for the diagnosis of XLID.

Impact of maternal education on the development of severe acute malnourished children

Background: Severe acute malnutrition (SAM) is a grave form of undernutrition that has been recognized as a medical and social disorder. Various factors contribute to the development of SAM, but the impact of maternal education on the nutritional status and development of the child is of paramount importance since focused interventions in this aspect can yield promising results. Aims and Objectives: The aims and objectives of the study are to assess the impact of maternal education on the development of children with SAM. Materials and Methods: A total of 125 SAM children in the age group 12–30 months were enrolled in this prospective observational study from among those admitted to the nutritional rehabilitation center of a tertiary care center in central India. The developmental status of SAM children was assessed using the Developmental Assessment Scale of Indian Infants. The association of maternal education with the development of SAM children was analyzed. Results: Overall developmental delay was observed in 44.8% of SAM children, whereas motor and mental development delay was noted in 45.6% and 44% of SAM children. The maternal education level was significantly associated with the overall development of the SAM child. (P=0.043 for motor development, P=0.017 for mental development, P=0.023 for motor developmental delay). Conclusion: Maternal education plays a key role in improving the developmental status of SAM children, who are more prone to developmental delays across various domains. Efforts toward enhancing maternal education, especially knowledge regarding child nutrition and development, can reduce the incidence and improve the management of SAM in children.

First-trimester fetal size, accelerated growth in utero, and child neurodevelopment in a cohort study.

Early pregnancy is a critical window for neural system programming; however, the association of first-trimester fetal size with children's neurodevelopment remains to be assessed. This study aimed to explore the association between first-trimester fetal size and children's neurodevelopment and to examine whether intrauterine accelerated growth could compensate for the detrimental effects of first-trimester restricted growth on childhood neurodevelopment. The participants were from a birth cohort enrolled from March 2014 to March 2019 in Wuhan, China. A total of 2058 fetuses with crown to rump length (CRL) (a proxy of first-trimester fetal size) measurements in the first trimester and neurodevelopmental assessment at age 2 years were included. We measured the first-trimester CRL and defined three fetal growth patterns based on the growth rate of estimated fetal weight from mid to late pregnancy. The neurodevelopment was assessed using the Bayley Scales of Infant Development of China Revision at 2 years. Each unit (a Z score) increase of first-trimester CRL was associated with increased scores in mental developmental index (MDI) (adjusted beta estimate = 1.19, (95% CI: 0.42, 1.95), P = 0.03) and psychomotor developmental index (PDI) (adjusted beta estimate = 1.36, (95% CI: 0.46, 2.26), P < 0.01) at age 2 years, respectively. No significant association was observed between fetal growth rate and PDI. For children with restricted first-trimester fetal size (the lowest tertile of first-trimester CRL), those with "intrauterine accelerated growth" pattern (higher growth rates) had significantly higher MDI (adjusted beta estimate = 6.14, (95% CI: 3.80, 8.49), P < 0.001) but indistinguishable PDI compared to those with "intrauterine faltering growth" pattern (lower growth rates). Main limitations of this study included potential misclassification of gestational age due to recall bias of the last menstrual period and residual confounding. The current study suggests that restricted first-trimester fetal size is associated with mental and psychomotor developmental delay in childhood. However, in children with restricted first-trimester fetal size, intrauterine accelerated growth was associated with improved mental development but had little effect on psychomotor development. Additional studies are needed to validate the results in diverse populations.

Proton magnetic resonance spectroscopy in children with some neurological and mental disorders accompanied by mental and speech development delay: a prospective study

Proton magnetic resonance spectroscopy in children with some neurological and mental disorders accompanied by mental and speech development delay: a prospective study

Speech Sound Disorders of Children With Mental Delays

This study aimed to investigate the speech sounds processes of children diagnosed with mental delays. Additionally, we explored all the sounds of the Albanian language, in level of articulation. We recruited 50 children, including 25 boys and 25 girls, with a mean age of 7.68 years. The results support the hypothesis that children diagnosed with mental delays are prone to speech sounds difficulties. Therefore, emphasizing the importance of possible risks in communication level is needed in order to address the needs of children with mental delays. Finally, this study is one of the first that investigated the phenomena of speech sounds difficulties in children with mental delays in Kosovar context.

Pulmonary Hypertension and Hypothyroidism-Still an Important Clinical Coincidence in Paediatric Population, an Endocrinologist's Point of View.

There is limited data on hypotheses linking autoimmune thyroid diseases (AITD) and hypothyroidism with pulmonary hypertension (PH). Moreover, the prevalence of this coincidence, as well as the possible common pathogenic mechanisms, are even less explicit in paediatric population. We present a review of recently published articles regarding relatively large cohorts of children with PH, coming from paediatric PH registries, aiming to clarify the coincidence of PH and AITD, especially hypothyroidism, and discuss its possible mutual impact. Although thyroid disorders have been excluded from the latest PH classification, it is still important to remember the possibility of this coincidence as it may significantly influence patients' clinical outcome. Moreover, children with PH may need multidisciplinary care due to the relatively frequent coexistence with not only hormonal abnormalities but also growth impairment, genetic disorders, and mental delay. Further specific paediatric studies are needed to improve the care in this rare disease, especially in patients with other comorbidities present.

Scoping review on the role of the family doctor in the prevention and care of patients with foetal alcohol spectrum disorder

BackgroundFoetal alcohol spectrum disorder (FASD) is the leading preventable cause of nongenetic mental disability. Given the patient care pathway, the General Practitioner (GP) is in the front line of prevention and identification of FASD. Acknowledging the importance of the prevalence of FASD, general practitioners are in the front line both for the detection and diagnosis of FASD and for the message of prevention to women of childbearing age as well as for the follow-up.ObjectivesThe main objective of the scoping review was to propose a reference for interventions that can be implemented by a GP with women of childbearing age, their partners and patients with FASD. The final aim of this review is to contribute to the improvement of knowledge and quality of care of patients with FASD.MethodsA scoping review was performed using databases of peer-reviewed articles following PRISMA guidelines. The search strategy was based on the selection and consultation of articles on five digital resources. The advanced search of these publications was established using the keywords for different variations of FASD: "fetal alcohol syndrome," "fetal alcohol spectrum disorder," "general medicine," "primary care," "primary care"; searched in French and English.ResultsTwenty-three articles meeting the search criteria were selected. The interventions of GPs in the management of patients with FASD are multiple: prevention, identification, diagnosis, follow-up, education, and the role of coordinator for patients, their families, and pregnant women and their partners. FASD seems still underdiagnosed.ConclusionThe interventions of GPs in the management of patients with FASD are comprehensive: prevention, identification, diagnosis, follow-up, education, and the role of coordinator for patients, their families, and pregnant women and their partners.Prevention interventions would decrease the incidence of FASD, thereby reducing the incidence of mental retardation, developmental delays, and social, educational and legal issues.A further study with a cluster randomized trial with a group of primary care practitioners trained in screening for alcohol use during pregnancy would be useful to measure the impact of training on the alcohol use of women of childbearing age and on the clinical status of their children.

THE RESEARCH OF SOCIAL COMMUNICATION COMPETENCE OF ADOLESCENTS WITH COMPENSATED MENTAL DEVELOPMENTAL DIFFICULTIES: THE RELEVANCE AND PROSPECTS

The article discusses the results of the study on social and communicative skills of adolescents with compensated difficulties in mental development. The relevance of the study is due to the steady increase in the number of children with various mental development delays, who, after appropriate correctional assistance, more or less successfully adapt to the conditions of the educational space, solving development problems at subsequent stages of life. A poor knowledge of these “delayed effects” of mental development difficulties in domestic psychology significantly limits the possibilities of providing adequate psychological assistance to adolescents of the above category. At the same time, in adolescence, integration into the system of communication and social interaction with others is considered as one of the most important tasks of personality development. It was revealed that the difficulty of mental development in childhood and its subsequent compensation have a significant impact on social behaviour in late adolescence.

Estimates of Major Depressive Disorder and Treatment Among Adolescents by Race and Ethnicity

The COVID-19 pandemic has contributed to poorer mental health and a greater need for treatment. Nationally representative estimates of major depressive disorder (MDD) and mental health treatment among US adolescents during the pandemic are needed. To estimate MDD prevalence among adolescents, evaluate mental health treatment use among adolescents with MDD, and assess differences by race and ethnicity. This cross-sectional analysis of the nationally representative 2021 National Survey on Drug Use and Health included noninstitutionalized US adolescents between the ages of 12 and 17 years (n = 10 743). Analytic weights were applied to all rates and model estimates to be nationally representative and account for sample design and survey nonresponse. Data were collected from January 14 to December 20, 2021, and analyzed from February 11 to April 3, 2023. Self-reported race and ethnicity. Dichotomous outcomes of MDD as defined by the Diagnostic and Statistical Manual of Mental Disorders (Fifth Edition), MDD-specific mental health treatment, any type of mental health treatment, telehealth visits, and delays in mental health treatment. The sample included 10 743 adolescents (51.1% male). Self-reported race and ethnicity included 5.1% Asian, 14.1% Black, 23.3% Latinx, 51.2% White, and 6.3% more than 1 race. Ages were evenly distributed: 34.0% aged 12 to 13 years; 33.3% aged 14 to 15 years; and 32.7% aged 16 to 17 years. Adolescents of more than 1 race or ethnicity had the highest MDD rate (26.5%). Compared with White adolescents, the lowest rates of any MDD treatment overall were found among Latinx adolescents (29.2% [95% CI, 22.2%-36.2%]) and those of more than 1 race or ethnicity (21.1% [95% CI, 11.6%-30.7%]). Similar results were found for treatment by any clinician (Latinx, 25.6% [95% CI, 18.8%-32.4%]; >1 race or ethnicity, 19.1% [95% CI, 9.7%-28.6%]), treatment by a mental health specialist (Latinx, 22.9% [95% CI, 16.9%-28.9%]; >1 race or ethnicity, 16.7% [95% CI, 7.1%-26.3%]), treatment by a nonspecialist clinician (Latinx, 7.3% [95% CI, 3.3%-11.3%]; >1 race or ethnicity, 4.8% [95% CI, 1.9%-7.7%]), and use of any psychotropic medication prescription (Latinx, 11.6% [95% CI, 7.3%-15.9%]; >1 race or ethnicity, 8.3% [95% CI, 2.8%-13.7]). Compared with White adolescents, Black adolescents had lower rates of MDD treatment by any clinician (31.7% [95% CI, 23.7%-39.8%]) and by nonspecialist clinicians (8.4% [95% CI, 3.8%-13.2%]) and experienced lower prescription rates for any psychotropic medication (12.6 [95% CI, 4.6%-20.6%]). Asian (16.0% [95% CI, 5.0%-27.2%]) and Latinx (17.8% [95% CI, 12.6%-23.0%]) adolescents had lower rates of virtual mental health treatment compared with White adolescents. Black (19.1% [95% CI, 14.1%-24.2%]) and Latinx (17.9% [95% CI, 15.0%-21.1%]) adolescents had lower rates of appointments transition to telehealth, while Black adolescents (14.1% [95% CI, 10.7%-17.4%]) experienced delays getting their prescriptions. During the first full calendar year of the pandemic, approximately 1 in 5 adolescents had MDD, and less than half of adolescents who needed treatment had any mental health treatment. Adolescents in racial and ethnic minority groups, particularly Latinx, experienced the lowest treatment rates. Federal policy should target adolescents as a whole, and minority populations in particular, to ensure equitable treatment access. Efforts should consider the social, racial, ethnic, and cultural determinants of health.

Genetic Predisposition to Adverse Neurodevelopmental Outcome of Extremely Low Birth Weight Infants.

This study aimed to evaluate whether there are genetic variants associated with adverse neurodevelopmental outcomes in extremely low birth weight (ELBW) infants. We conducted a candidate gene association study in two well-defined cohorts of ELBW infants (<1,000 g). One cohort was for discovery and the other for replication. The discovery case-control analysis utilized anonymized DNA samples and evaluated 1,614 single-nucleotide polymorphisms (SNPs) in 145 genes concentrated in inflammation, angiogenesis, brain development, and oxidation pathways. Cases were children who died by age one or who were diagnosed with cerebral palsy (CP) or neurodevelopmental delay (Bayley II mental developmental index [MDI] or psychomotor developmental index [PDI] < 70) by 18 to 22 months. Controls were survivors with normal neurodevelopment. We assessed significant epidemiological variables and SNPs associated with the combined outcome of CP or death, CP, mental delay (MDI < 70) and motor delay (PDI < 70). Multivariable analyses adjusted for gestational age at birth, small for gestational age, sex, antenatal corticosteroids, multiple gestation, racial admixture, and multiple comparisons. SNPs associated with adverse neurodevelopmental outcomes with p < 0.01 were selected for validation in the replication cohort. Successful replication was defined as p < 0.05 in the replication cohort. Of 1,013 infants analyzed (452 cases, 561 controls) in the discovery cohort, 917 were successfully genotyped for >90% of SNPs and passed quality metrics. After adjusting for covariates, 26 SNPs with p < 0.01 for one or more outcomes were selected for replication cohort validation, which included 362 infants (170 cases and 192 controls). A variant in SERPINE1, which encodes plasminogen activator inhibitor (PAI1), was associated with the combined outcome of CP or death in the discovery analysis (p = 4.1 × 10-4) and was significantly associated with CP or death in the replication cohort (adjusted odd ratio: 0.4; 95% confidence interval: 0.2-1.0; p = 0.039). A genetic variant in SERPINE1, involved in inflammation and coagulation, is associated with CP or death among ELBW infants. · Early preterm and ELBW infants have dramatically increased risks of CP and developmental delay.. · A genetic variant in SERPINE1 is associated with CP or death among ELBW infants.. · The SERPINE1 gene encodes the serine protease inhibitor plasminogen activator inhibitor..

Identifying Risk Factors Associated with Repeated Referrals Within a Pediatric Navigation Program.

Approximately 1-in-5 children have a diagnosed mental, behavioral, and/or developmental disorder or delay by age 8 in the United States. Children with such conditions often require complex, complicated diagnostic and specialty care, making them susceptible to repeated referrals and ongoing unmet healthcare needs. Patient navigation programs (PNPs) are designed to integrate care from primary care providers to community-based services, using trained navigators to help patients and their families manage referrals and connect with referred services. This study examines factors associated with repeated referrals to an active PNP to inform ongoing referral patterns and adaptations to standard navigation support within a large healthcare system in South Carolina (SC). Data is sourced from the inception of the PNP in 2017 through 2022, including 15,702 referrals. Overall, 71.07% had no repeated referrals. Children who are older, diagnosed with attention deficit disorder(s), behavioral concerns, depression, multiple referral needs, and insured by Medicaid were found to be most susceptible to repeated referrals. Conversely, children who are non-Hispanic Black, were referred at a well-child visit, and are primarily insured by private insurance or Tricare were least likely to have repeated referrals. Children who are insured by Medicaid are more likely to be younger, identify as non-Hispanic Black, Hispanic, or another race/ethnicity, and have multiple needs at time of initial referral, identifying a potentially compounded risk for those who hold multiple risk factors to experiencing repeated referrals. Findings may inform adaptations to this PNP model to adjust navigator protocol for at-risk populations and equitably optimize referral-to-service connection.

Morphometric Shape Analysis of Corpus Callosum in Children With Down Syndrome.

Down syndrome (DS) is characterized by varying degrees of mental retardation and delay in neurocognitive functions. Herein, we analyzed the morphometric shape of the corpus callosum (CC) in children with DS. Twenty-three DS cases underwent magnetic resonance imaging and have grossly normal CC, and 23 control group cases were included in this retrospective study (2012-2020). The CC was obtained from T2-weighted mid-sagittal images, and certain anatomical points were marked on the CC. Statistical geometric shapes and deformations of CC were evaluated for both groups. The age range of patients with DS and control group was 6 to 42 months. A statistically significant difference was found in the shape of CC between the groups (P < .001). Deformation was most evident in the splenium in the DS group.

Clinical phenotype and genetic analysis of a patient with a heterozygous 6p25.3 deletion and partial trisomy 15q

To investigate the clinical phenotype and genetic characteristics of a patient with a heterozygous 6p25.3 deletion and partial trisomy 15q. A patient who had presented at the Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University on May 14, 2021 was selected as the study subject. Clinical data of the patient was collected, and G-banded chromosomal karyotyping and copy number variation sequencing (CNV-seq) were carried out. The patient's main clinical features have included complete uterine septum, vaginal septum, atrophy of left eyeball, abnormal fingers and toes, and mental retardation. The karyotype of the patient was 46,XX,der(6)t(6;15)(p25.3;q26.1). CNV-seq result has indicated a 1.20 Mb heterozygous deletion in the 6p25.3 region and a 10.20 Mb duplication in the 15q26.1q26.3 region. The deletion segment has included the FOXQ1 gene, which may be related with the abnormal development of the left eye. The duplication segment has a 96.16% overlap with the region associated with 15q26 overgrowth syndrome (including the IGF1R gene), which may be related to the patient' s abnormal development of the Müllerian duct, abnormal fingers and toes, and mental developmental delay. The heterozygous deletion of the 6p25.3 region and duplication of the 15q26.1q26.3 region probably underlay the abnormal clinical phenotype in this patient.