Developmental Disorders Research Articles

The Effects of Physical Activity Interventions on Children’s Perception: A Systematic Review and Meta-Analysis

Perception is an essential component of children’s psychological development, which is foundational to children’s ability to understand and adapt to their external environment. Perception is also a crucial tool for understand and navigating one’s surroundings, enabling children to identify objects and react appropriately to settings or situations. Substantial evidence indicates that engaging in physical activity is beneficial for the development of children’s perceptual abilities, as the two are closely intertwined. Still, more research is necessary to gain a full understanding of the impact of physical activity on children’s perception. To further identify and quantify the effects of physical activity on a number of specific perceptions in children. Systematic review and meta-analysis. Searches were performed using five online databases (i.e., PubMed, SPORTDiscus, PsycINFO, Web of Science, and Cochrane Library) for articles published up to and including June 2023 to identify eligible citations. A total of 12 randomized controlled trials, encompassing 1,761 children under the age of 12, were analyzed. Overall, physical activity as an intervention showed a notable effect on the development of children’s perceptions. The meta-analysis indicated that participating in physical activity for 30 minutes around, daily, had a greater impact on children’s visual perception and executive functioning than on their motor perception, body perception, and global self-worth (SMD = 1.33, 95% CI: 0.75, 1.91, p < 0.001). The effects of physical activity on children’s perception performance varied by participant characteristics, with physical activity having better effects on body perception and overall self-worth in children who were obese or overweight. Furthermore, physical activity can also enhance executive function and attention in children with developmental coordination disorders. The effects of physical activity on children’s perception performance varied according to the intervention time, with different activity durations resulting in different perception performances. Therefore, parents and educators must prioritize an appropriate length of physical activity time for children to ensure their optimal growth and development. Registration and protocol CRD42023441119.

Implementing preventive healthcare strategies in early intervention

In recent years, efforts to promote early intervention for children with developmental delays have been made to prevent further pathological invasion in children. Early rehabilitation through early screening not only enhances treatment effectiveness but also significantly reduces the pain and damage caused by diseases to families. In the concept of preventive healthcare strategies, it can be divided into three stages and five levels: (1) Primary prevention: can be divided into two levels, health promotion, and specific protection. (2) Secondary prevention: providing early treatment through early screening. (3) Tertiary prevention: mainly aimed at restoring the maximum function of disabilities caused by diseases, only causing minimal restrictions on personal function, and can be divided into two levels, limitation of disability, and rehabilitation treatment. In this article, besides exploring the causes of early childhood developmental disorders, the author combines preventive healthcare strategies to propose the differentiated application of early intervention in the three stages of preventive healthcare. This article reviews the current situation and challenges in Taiwan, and proposes possible responses based on scholars' views and personal opinions, aiming to enhance the quality of early intervention services provided by interdisciplinary teams.

Auditory rhythm facilitates perception and action in children at risk for developmental coordination disorder

Developmental Coordination Disorder (DCD) is a common neurodevelopmental disorder featuring deficits in motor coordination and motor timing among children. Deficits in rhythmic tracking, including perceptually tracking and synchronizing action with auditory rhythms, have been studied in a wide range of motor disorders, providing a foundation for developing rehabilitation programs incorporating auditory rhythms. We tested whether DCD also features these auditory-motor deficits among 7–10 year-old children. In a speech recognition task with no overt motor component, modulating the speech rhythm interfered more with the performance of children at risk for DCD than typically developing (TD) children. A set of auditory-motor tapping tasks further showed that, although children at risk for DCD performed worse than TD children in general, the presence of an auditory rhythmic cue (isochronous metronome or music) facilitated the temporal consistency of tapping. Finally, accuracy in the recognition of rhythmically modulated speech and tapping consistency correlated with performance on the standardized motor assessment. Together, the results show auditory rhythmic regularity benefits auditory perception and auditory-motor coordination in children at risk for DCD. This provides a foundation for future clinical studies to develop evidence-based interventions involving auditory-motor rhythmic coordination for children with DCD.

Comparison of the effect of teaching games for understanding, sport education, combined and linear pedagogy on motor proficiency of children with developmental coordination disorder

IntroductionThe prevalence of developmental coordination disorder (DCD) is increasing and it has been shown that the main problem of children with DCD is their low motor proficiency. Therefore, it is important to find a way to improve motor skills in these children. Thus, this study aimed to compare the effect of teaching games for understanding (TGFU), sport education (SE), combined (TGFU and SE), and linear pedagogy (LP) on motor proficiency of children with DCD.MethodsIn this regard, among 7-year-old children in Turkey, 80 children were selected voluntarily and by evaluating the MABCD-2 test. These children were randomly placed in four-LP (control), SE, TGFU, and combined (SE-TGFU) groups and practiced futsal exercises for 16 sessions under the supervision of coaches specific to each method. BOT-2 short-form test was used to evaluate motor proficiency.ResultsThe results of the analysis of the covariance test showed that the group effect is significant, and the results of the post hoc LSD test showed a significant difference between the LP with SE, LP with TGFU, LP with combination, SE with TGFU, SE with combination and TGFU with combination groups (p = <0.001).DiscussionBased on the results of this study, the combined method is the best compared to other methods. Generally, combining games as an important activity in childhood with SE that emphasizes improving the child’s self-esteem is a method that can solve the movement competence that is the main problem of DCD children and lead them to continue physical activity.

Unpacking the prevalence: A warning against overstating the recently narrowed gap for Black autistic youth.

Recent findings from the Centers for Disease Control and Prevention's (CDC) Autism and Developmental Disabilities Monitoring (ADDM) Network's 2020 prevalence report indicate that disparities in autism diagnoses between Black and White youth have narrowed, reflecting improved screening, awareness, and access to services (Maenner et al., 2023. Morbidity and Mortality Weekly Report. Surveillance Summaries (Washington, D.C.: 2002), 72, 1-14.). Claims of reducing disparities beyond prevalence rates, however, are not fully supported, as indicated by the reality that Black youth whose screenings indicate autistic traits are still not being referred for full evaluation or early intervention services at the same rate as their White peers (Major et al., 2020. Autism, 24, 1629-1638; Smith et al., 2020. Pediatrics, 145, S35-S46.). Black 8-year-olds identified as autistic still experience disparate educational placements (Waitoller et al., 2010. The Journal of Special Education. 44, 29-49.) where services may not be autism-specific or have Individual Education Plan goals only focused on "behavior problems" (Severini et al., 2018. Journal of Autism and Developmental Disorders, 48, 3261-3272.), are served in the most restrictive environments (Skiba et al., 2006. Exceptional Children, 72, 411-424.) and lack consistent augmentative and alternative communication support (Pope et al., 2022. American Journal of Speech-Language Pathology, 31, 2159-2174.). Additionally, ADMM researchers report consistent disparities in the identification of co-occurring intellectual disability where Black autistic children have significantly more co-occurrences than White autistic children. The purpose of this commentary is to first examine the assertion that the narrowed gap indicates, "…improved…access to services among historically underserved groups," (p. 9) (Maenner et al., 2023. Morbidity and Mortality Weekly Report. Surveillance Summaries (Washington, D.C.: 2002), 72, 1-14.). We will then recommend strategies to address the ongoing disparities.

Epigenetics and environmental health.

Epigenetic modifications including DNA methylation, histone modifications, chromatin remodeling, and RNA modifications complicate gene regulation and heredity and profoundly impact various physiological and pathological processes. In recent years, accumulating evidence indicates that epigenetics is vulnerable to environmental changes and regulates the growth, development, and diseases of individuals by affecting chromatin activity and regulating gene expression. Environmental exposure or induced epigenetic changes can regulate the state of development and lead to developmental disorders, aging, cardiovascular disease, Alzheimer's disease, cancers, and so on. However, epigenetic modifications are reversible. The use of specific epigenetic inhibitors targeting epigenetic changes in response to environmental exposure is useful in disease therapy. Here, we provide an overview of the role of epigenetics in various diseases. Furthermore, we summarize the mechanism of epigenetic alterations induced by different environmental exposures, the influence of different environmental exposures, and the crosstalk between environmental variation epigenetics, and genes that are implicated in the body's health. However, the interaction of multiple factors and epigenetics in regulating the initiation and progression of various diseases complicates clinical treatments. We discuss some commonly used epigenetic drugs targeting epigenetic modifications and methods to prevent or relieve various diseases regulated by environmental exposure and epigenetics through diet.

Characteristics of children with autism spectrum disorder in pediatric rehabilitation at a referral hospital in Peru.

Motivation for the study. Despite the prevalence of ASD, research in the field of Physical Medicine and Rehabilitation is scarce in Peru. Main findings. Of 120 children with a previous diagnosis of ASD, only 9.8% received inclusive education. The median age at diagnosis was 3.83 years. We also found that 78.4% had no disability certificate and 77.5% had incomplete psychological evaluation. The median time since the last physical, occupational, and speech therapy sessions was 3 months, 8 months, and 3.5 months, respectively. Implications. These findings highlight the need to enhance early diagnosis, inclusive education, and evaluation and subsequent certification of disability, as well as to establish more timely interventions. Autism spectrum disorder (ASD) is characterized by developmental disorders, difficulties in social interaction and communication, and restrictive and repetitive patterns of behavior. Despite its high prevalence, few studies have been conducted in rehabilitation settings. This study aimed to describe the characteristics of children with ASD from the Pediatric Rehabilitation Service of the Rebagliati Hospital (SRP-HNERM). Cross-sectional descriptive study. We reviewed the medical records of children under 14 years of age previously diagnosed with ASD from the SRP-HNERM during 2022. A total of 120 children with ASD were evaluated. The median age was 5 years. Most received regular education, but it was inclusive only for 9.8%. The mean age at diagnosis was 3.83 years. We found that 78.4% had no disability certificate and 77.5% of the participants had incomplete psychological evaluation. The median time since the last physical, occupational and speech therapy sessions was 3, 8 and 3.5 months respectively. The mean age at diagnosis of ASD was older than three years, and more than 75% of the patients had neither a disability certificate nor a complete psychological evaluation. The median time since the last rehabilitation therapy sessions was three months or more. Our findings highlight the need to improve early diagnosis, inclusive education and evaluation and subsequent certification of disability, as well as to establish timely interventions.

Localization of stuttering based on causal brain lesions.

Stuttering affects approximately 1 in 100 adults and can result in significant communication problems and social anxiety. It most often occurs as a developmental disorder but can also be caused by focal brain damage. These latter cases may lend unique insight into the brain regions causing stuttering. Here, we investigated the neuroanatomical substrate of stuttering using three independent datasets: (i) case reports from the published literature of acquired neurogenic stuttering following stroke (n = 20, 14 males/six females, 16-77 years); (ii) a clinical single study cohort with acquired neurogenic stuttering following stroke (n = 20, 13 males/seven females, 45-87 years); and (iii) adults with persistent developmental stuttering (n = 20, 14 males/six females, 18-43 years). We used the first two datasets and lesion network mapping to test whether lesions causing acquired stuttering map to a common brain network. We then used the third dataset to test whether this lesion-based network was relevant to developmental stuttering. In our literature dataset, we found that lesions causing stuttering occurred in multiple heterogeneous brain regions, but these lesion locations were all functionally connected to a common network centred around the left putamen, including the claustrum, amygdalostriatal transition area and other adjacent areas. This finding was shown to be specific for stuttering (PFWE < 0.05) and reproducible in our independent clinical cohort of patients with stroke-induced stuttering (PFWE < 0.05), resulting in a common acquired stuttering network across both stroke datasets. Within the common acquired stuttering network, we found a significant association between grey matter volume and stuttering impact for adults with persistent developmental stuttering in the left posteroventral putamen, extending into the adjacent claustrum and amygdalostriatal transition area (PFWE < 0.05). We conclude that lesions causing acquired neurogenic stuttering map to a common brain network, centred to the left putamen, claustrum and amygdalostriatal transition area. The association of this lesion-based network with symptom severity in developmental stuttering suggests a shared neuroanatomy across aetiologies.

Objective and automatic assessment approach for diagnosing attention-deficit/hyperactivity disorder based on skeleton detection and classification analysis in outpatient videos

BackgroundAttention-deficit/hyperactivity disorder (ADHD) is diagnosed in accordance with Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition criteria by using subjective observations and information provided by parents and teachers. However, subjective analysis often leads to overdiagnosis or underdiagnosis. There are two types of motor abnormalities in patients with ADHD. First, hyperactivity with fidgeting and restlessness is the major diagnostic criterium for ADHD. Second, developmental coordination disorder characterized by deficits in the acquisition and execution of coordinated motor skills is not the major criterium for ADHD. In this study, a machine learning-based approach was proposed to evaluate and classify 96 patients into ADHD (48 patients, 26 males and 22 females, with mean age: 7y6m) and non-ADHD (48 patients, 26 males and 22 females, with mean age: 7y8m) objectively and automatically by quantifying their movements and evaluating the restlessness scales.MethodsThis approach is mainly based on movement quantization through analysis of variance in patients’ skeletons detected in outpatient videos. The patients’ skeleton sequence in the video was detected using OpenPose and then characterized using 11 values of feature descriptors. A classification analysis based on six machine learning classifiers was performed to evaluate and compare the discriminating power of different feature combinations.ResultsThe results revealed that compared with the non-ADHD group, the ADHD group had significantly larger means in all cases of single feature descriptors. The single feature descriptor “thigh angle”, with the values of 157.89 ± 32.81 and 15.37 ± 6.62 in ADHD and non-ADHD groups (p < 0.0001), achieved the best result (optimal cutoff, 42.39; accuracy, 91.03%; sensitivity, 90.25%; specificity, 91.86%; and AUC, 94.00%).ConclusionsThe proposed approach can be used to evaluate and classify patients into ADHD and non-ADHD objectively and automatically and can assist physicians in diagnosing ADHD.

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

Generation and subsequently accessibility of secondary findings (SF) in diagnostic practice is a subject of debate around the world and particularly in Europe. The French FIND study has been set up to assess patient/parent expectations regarding SF from exome sequencing (ES) and to collect their real-life experience until 1 year after the delivery of results. 340 patients who had ES for undiagnosed developmental disorders were included in this multicenter mixed study (quantitative N = 340; qualitative N = 26). Three groups of actionable SF were rendered: predisposition to late-onset actionable diseases; genetic counseling; pharmacogenomics. Participants expressed strong interest in obtaining SF and a high satisfaction level when a SF is reported. The medical actionability of the SF reinforced parents' sense of taking action for their child and was seen as an opportunity. While we observed no serious psychological concerns, we showed that these results could have psychological consequences, in particular for late-onset actionable diseases SF, within families already dealing with rare diseases. This study shows that participants remain in favor of accessing SF despite the potential psychological, care, and lifestyle impacts, which are difficult to anticipate. The establishment of a management protocol, including the support of a multidisciplinary team, would be necessary if national policy allows the reporting of these data.

Modification of ABA VB Therapy Methods with Pomodoro to Improve Verbal Communication in Autism Children

Autism is a pervasive developmental disorder in children characterized by disturbances and delays in cognitive, language, behavioral, and social interactions. Verbal Behavior approach is one of the methods of ABA which is used to increase desired behavior and reduce unwanted problems, while pomodoro is a timing technique. This article describes the implementation of an intervention program for children with autism, this program modifies ABA VB therapy and combines it with a timing technique, namely POMODORO. The author implemented the program for 4 meetings. At the first meeting until the fourth meeting there was an increase in the child's verbal ability although it was not so visible. The intervention program developed by the author had good results, because at the first meeting the results were already visible. This intervention should be done repeatedly or routinely so that children get used to it and get maximum results.

Sentence Repetition as a Diagnostic Tool for Developmental Language Disorder: A Systematic Review and Meta-Analysis.

This systematic review and multilevel meta-analysis examines the accuracy of sentence repetition (SR) tasks in distinguishing between typically developing (TD) children and children with developmental language disorder (DLD). It explores variation in the way that SR tasks are administered and/or evaluated and examines whether variability in the reported ability of SR to detect DLD is related to these differences. Four databases were searched to identify studies that had used an SR task on groups of monolingual children with DLD and TD children. Searches produced 3,459 articles, of which, after screening, 66 were included in the systematic review. A multilevel meta-analysis was then conducted using 46 of these studies. Multiple preregistered subgroup analyses were conducted in order to explore the sources of heterogeneity. The systematic review found a great deal of methodological variation, with studies spanning 19 languages, 39 SR tasks, and four main methods of production scoring. There was also variation in study design, with different sampling (clinical and population sampling) and matching (age and language matching) methods. The overall meta-analysis found that, on average, TD children outperformed children with DLD on the SR tasks by 2.08 SDs. Subgroup analyses found that effect size only varied as a function of the matching method and language of the task. Our results indicate that SR tasks can distinguish children with DLD from both age- and language-matched samples of TD children. The usefulness of SR appears robust to most kinds of task and study variation. https://doi.org/10.23641/asha.25864405.

Changes in CpG Methylation of the Vitellogenin 1 Promoter in Adult Male Zebrafish after Exposure to 17α-Ethynylestradiol.

Numerous pharmaceutical and industrial chemicals are classified as endocrine-disrupting chemicals (EDCs) that interfere with hormonal homeostasis, leading to developmental disorders and other pathologies. The synthetic estrogen 17α-ethynylestradiol (EE2) is used in oral contraceptives and other hormone therapies. EE2 and other estrogens are inadvertently introduced into aquatic environments through municipal wastewater and agricultural effluents. Exposure of male fish to estrogens increases expression of the egg yolk precursor protein vitellogenin (Vtg), which is used as a molecular marker of exposure to estrogenic EDCs. The mechanisms behind Vtg induction are not fully known, and we hypothesized that it is regulated via DNA methylation. Adult zebrafish were exposed to either dimethyl sulfoxide or 20 ng/L EE2 for 14 days. Messenger RNA (mRNA) expression and DNA methylation were assessed in male zebrafish livers at 0, 0.25, 0.5, 1, 4, 7, and 14 days of exposure; and those of females were assessed at 13 days (n ≥ 4/group/time point). To test the persistence of any changes, we included a recovery group that received EE2 for 7 days and did not receive any for the following 7 days, in the total 14-day study. Methylation of DNA at the vtg1 promoter was assessed with targeted gene bisulfite sequencing in livers of adult male and female zebrafish. A significant increase in vtg1 mRNA was observed in the EE2-exposed male fish as early as 6 h. Interestingly, DNA methylation changes were observed at 4 days. Decreases in the overall methylation of the vtg1 promoter in exposed males resulted in levels comparable to those in female controls, suggesting feminization. Importantly, DNA methylation levels in males remained significantly impacted after 7 days post-EE2 removal, unlike mRNA levels. These data identify an epigenetic mark of feminization that may serve as an indicator of not only estrogenic exposure but also previous exposure to EE2. Environ Toxicol Chem 2024;00:1-10. © 2024 SETAC. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.

Case Report of Suspected Gonadal Mosaicism in FOXP1-Related Neurodevelopmental Disorder

Heterozygous mutations in the FOXP1 gene (OMIM#605515) are responsible for a well-characterized neurodevelopmental syndrome known as “intellectual developmental disorder with language impairment with or without autistic features” (OMIM#613670) or FOXP1 syndrome for short. The main features of the condition are global developmental delay/intellectual disability; speech impairment in all individuals, regardless of their level of cognitive abilities; behavioral abnormalities; congenital anomalies, including subtle dysmorphic features; and strabismus, brain, cardiac, and urogenital abnormalities. Here, we present two siblings with a de novo heterozygous FOXP1 variant, namely, a four-year-old boy and 14-month-old girl. Both children have significantly delayed early psychomotor development, hypotonia, and very similar, slightly dysmorphic facial features. A lack of expressive speech was the leading symptom in the case of the four-year-old boy. We performed whole-exome sequencing on the male patient, which identified a pathogenic heterozygous c.1541G&gt;A (p.Arg514His) FOXP1 mutation. His sister’s targeted mutation analysis also showed the same heterozygous FOXP1 variant. Segregation analysis revealed the de novo origin of the mutation, suggesting the presence of parental gonadal mosaicism. To the best of our knowledge, this is the first report of gonadal mosaicism in FOXP1-related neurodevelopmental disorders in the medical literature.

Children with developmental coordination disorders: a review of approaches to assessment and intervention

Developmental Coordination Disorder (DCD) is a neurodevelopmental disorder characterized by deficits in motor skills, with gross and fine motor dysfunction being the main symptom. This condition greatly impairs children’s daily life, learning, and social interaction. Symptoms typically appear during preschool or school age, and if left untreated, they can persist into adulthood. Thus, early assessment and intervention are crucial to improve the prognosis. This study aims to review the existing literature on DCD, providing a comprehensive overview of the assessment for children with DCD in terms of body functions and structures, activities and participation, and environmental factors within the framework of the International Classification of Functioning, Disability, and Health - Children and Youth (ICF-CY). Additionally, specific rehabilitation interventions will be described, offering valuable insights for the clinical assessment and intervention of children with DCD.

Sexual Dimorphisms in Skeletal Muscle: Current Concepts and Research Horizons.

The complex compositional and functional nature of skeletal muscle makes this organ an essential topic of study for biomedical researchers and clinicians. An additional layer of complexity is added with the consideration of sex as a biological variable. Recent research advances have revealed sexual dimorphisms in developmental biology, muscle homeostasis, adaptive responses, and disorders relating to skeletal muscle. Many of the observed sex differences have hormonal and molecular mechanistic underpinnings, while others have yet to be elucidated. Future research is needed to investigate the mechanisms dictating sex-based differences in the various aspects of skeletal muscle. As such, it is necessary that skeletal muscle biologists ensure that both female and male subjects are represented in biomedical and clinical studies to facilitate the successful testing and development of therapeutics for all patients.

Changes in cortical grey matter volume with Cognitive Orientation to daily Occupational Performance intervention in children with developmental coordination disorder

Changes in cortical grey matter volume with Cognitive Orientation to daily Occupational Performance intervention in children with developmental coordination disorder

Administration of Atosiban, an oxytocin receptor antagonist, ameliorates autistic-like behaviors in a female rat model of valproic acid-induced autism

Autism spectrum disorder (ASD) is a pervasive developmental disorder with gender differences. Oxytocin (OXT) is currently an important candidate drug for autism, but the lack of data on female autism is a big issue. It has been reported that the effect of OXT is likely to be different between male and female ASD patients. In the study, we specifically explored the role of the OXT signaling pathway in a VPA-induced female rat’s model of autism. The data showed that there was an increase of either oxytocin or its receptor expressions in both the hippocampus and the prefrontal cortex of VPA-induced female offspring. To determine if the excess of OXT signaling contributed to autism symptoms in female rats, exogenous oxytocin and oxytocin receptor antagonists Atosiban were used in the experiment. It was found that exogenous oxytocin triggered autism-like behaviors in wild-type female rats by intranasal administration. More interestingly, several autism-like deficits including social interaction, anxiety, and repeat stereotypical sexual behavior in the VPA female offspring were significantly attenuated by oxytocin receptor antagonists Atosiban. Moreover, Atosiban also effectively improved the synaptic plasticity impairment induced by VPA in female offspring. Our results suggest that oxytocin receptor antagonists significantly improve autistic-like behaviors in a female rat model of valproic acid-induced autism.

Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report

BackgroundBosma arhinia microphthalmia syndrome (BAMS; MIM603457) is a rare genetic disorder, predominantly autosomal dominant. It is a multi-system developmental disorder characterized by severe hypoplasia of the nose and eyes, and reproductive system defects. BAMS is extremely rare in the world and no cases have been reported in Chinese population so far. Pathogenic variants in the SMCHD1 gene (MIM614982) cause BAMS, while the underlying molecular mechanisms requires further investigation.Case presentationIn this study, a Chinese girl who has suffered from congenital absence of nose and microphthalmia was enrolled and subsequently submitted to a comprehensive clinical and genetic evaluation. Whole-exome sequencing (WES) was employed to identify the genetic entity of thisgirl. A heterozygous pathogenic variant, NM_015295, c.1025G > C; p. (Trp342Ser) of SMCHD1 was identified. By performing very detailed physical and genetic examinations, the patient was diagnosed as BAMS.ConclusionThis report is the first description of a variant in SMCHD1 in a Chinese patient affected with BAMS.Our study not only furnished valuable genetic data for counseling of BAMS, but also confirmed the diagnosis of BAMS, which may help the management and prognosis for this patient.

A rare case of congenital right lobar segmental hepatic hypoplasia complicated by portal hypertension: a radiologic perspective

Abstract Background Segmental hypoplasia of liver is an infrequently encountered congenital anomaly which is clinically indolent and detected incidentally on cross sectional imaging or abdominal surgery which can have a myriad of surgical and medical implications. The unique radiological manifestations and associated complications makes it a diagnostically challenging entity. Case presentation We report a case of a middle-aged female presenting with complaints of non-specific abdominal pain for two years in which we reported the presence of segmental hypoplasia of right lobe complicated by development of portal hypertension incidentally detected on ultrasound examination which was followed up and confirmed on cross sectional imaging. Conclusions In this case report, we present a unique instance of congenital segmental hypoplasia of the liver, highlighting the intricacies of its radiological presentation, potential clinical implications, and the challenges associated with its diagnosis. By examining this rare anomaly, we aim to contribute to the growing body of knowledge surrounding hepatic developmental disorders, fostering a deeper understanding of the clinical spectrum, and facilitating improved patient care through enhanced diagnostic awareness.