Poor Language Development Research Articles

Early developmental milestone clusters of autistic children based on electronic health records.

Autistic children vary in symptoms, co-morbidities, and response to interventions. This study aimed to identify clusters of autistic children with a distinct pattern of attaining early developmental milestones (EDMs). The clustering of 5836 autistic children was based on the attainment of 43 gross motor, fine motor, language, and social developmental milestones during the first 3 years of life as recorded in baby wellness visits. K-means cluster analysis detected four EDM clusters: mild (n = 1686); moderate (n = 1691); severe (n = 2265); and global (n = 194). The most prominent cluster differences were in the language domain. The global cluster showed earlier and greater developmental delay across domains, unique early gross motor delays, and more were born preterm via cesarean section. The severe cluster had poor language development prominently in the second year of life, and later fine motor delays. Moderate cluster had mainly language delays in the third year of life. The mild cluster mostly passed milestones. EDM clusters differed demographically, with higher socioeconomic status in mild cluster and lowest in global cluster. However, the severe cluster had more immigrant and non-Jewish mothers followed by the moderate cluster. The rates of parental concerns and provider developmental referrals were significantly higher in the global, followed by the severe, moderate, and mild EDM clusters. Autistic children's language and motor delay in the first 3 years can be grouped by common magnitude and onset profiles as distinct groups that may link to specific etiologies (like prematurity or genetics) and specific intervention programs. Early autism screening should be tailored to these different developmental profiles.

Mobile device screen time is associated with poorer language development among toddlers: results from a large-scale survey

BackgroundDespite young children’s widespread use of mobile devices, little research exists on this use and its association with children’s language development. The aim of this study was to examine the associations between mobile device screen time and language comprehension and expressive language skills. An additional aim was to examine whether three factors related to the domestic learning environment modify the associations.MethodsThe study uses data from the Danish large-scale survey TRACES among two- and three-year-old children (n = 31,125). Mobile device screen time was measured as time spent on mobile devices on a normal day. Measurement of language comprehension and expressive language skills was based on subscales from the Five to Fifteen Toddlers questionnaire. Multivariable linear regression was used to examine the association between child mobile device screen time and language development and logistic regression to examine the risk of experiencing significant language difficulties. Joint exposure analyses were used to examine the association between child mobile device screen time and language development difficulties in combination with three other factors related to the domestic learning environment: parental education, reading to the child and child TV/PC screen time.ResultsHigh mobile device screen time of one hour or more per day was significantly associated with poorer language development scores and higher odds for both language comprehension difficulties (1–2 h: AOR = 1.30; ≥ 2 h: AOR = 1.42) and expressive language skills difficulties (1–2 h: AOR = 1.19; ≥ 2 h: AOR = 1.46). The results suggest that reading frequently to the child partly buffers the negative effect of high mobile device screen time on language comprehension difficulties but not on expressive language skills difficulties. No modifying effect of parental education and time spent by the child on TV/PC was found.ConclusionsMobile device screen time of one hour or more per day is associated with poorer language development among toddlers. Reading frequently to the child may have a buffering effect on language comprehension difficulties but not on expressive language skills difficulties.

Unsupervised Screen Exposure and Poor Language Development: A Scoping Review to Assess Current Evidence and Suggest Priorities for Research.

Screen exposure has both negative and positive effects on the level of language skills a child acquires. The purpose of this review is to address current literature on the possible relationship between unsupervised screen exposure and language development in children and to provide recommendations to caregivers regarding screen exposure of children, taking into consideration the possible effects. A scoping review was conducted using the PubMed/MEDLINE (Medical Literature Analysis and Retrieval System Online) database. A total of 590 articles were retrieved and considered for inclusion. Twenty-one articles were finally included and reviewed with an emphasis on language, communication, and executive skills as well as cognitive development. The negative effects of screen exposure for children outweigh the positive effects. The largest number of studies demonstrate that unsupervised screen exposure may negatively impact a child's language usage and cognitive and executive skills, disrupt playtime, and affect the quality of sleep. On the other hand, supervised screen use is associated with improved language skills. More evidence is needed on unsupervised exposure in children to new types of screens. As technology could play a significant role in schools in the future, additional research is required to create educational media for schoolchildren with specific guidelines.

Hearing Loss and Urinary trans,trans-Muconic Acid (t,t-MA) in 6- to 19-Year-Old Participants of NHANES 2017-March 2020.

Hearing loss (HL) is associated with poorer language development and school performance. Ototoxic substances such as metals and solvents, including benzene, are a risk factor associated with HL. This study examines potential associations between the benzene metabolite trans,trans-muconic acid (t,t-MA) and HL in youth of the National Health and Nutrition Examination Survey (NHANES). Logistic regression calculated adjusted odds ratio (aOR) associations between HL and urinary t,t-MA quartiles, natural-log transformed, and doubled urinary t,t-MA. Hearing threshold pure-tone average (PTA) at speech frequencies (SF) 0.5, 1, 2, and 4 kHz and high frequencies (HF) 3, 4, and 6 kHz were analyzed for slight HL (PTA > 15 dB) and mild HL (PTA > 20 dB). Urinary t,t-MA was statistically significantly associated with both slight SF and HF HL. For each doubling of t,t-MA there were increased odds of having slight SFHL (aOR = 1.42; 95% CI: 1.05, 1.92), slight HFHL (aOR = 1.31; 95% CI: 1.03, 1.66), mild SFHL (aOR = 1.60; 95% CI: 1.10, 2.32), and mild HFHL (aOR = 1.45; 95% CI: 1.03, 2.04). To our knowledge, this is the first population-based report of an association between SFHL, HFHL, and the benzene metabolite t,t-MA in youth 6 to 19 years old.

Nutritional status of Vietnamese infants assessed by Fenton growth chart and related factors: A cross-sectional study.

Nutritional status of infants, measured by birth weight and length, is an essential factor in neonatal development. Malnutrition in newborns may lead to a higher risk of mortality, neurological and cognitive impairment, and poor language development. This study aims to assess the nutritional status of infants and related factors regarding maternal anthropometric characteristics and medical history. A cross-sectional study was conducted at the National Hospital of Obstetrics and Gynecology, Vietnam from May 2021 to May 2022 on 340 infants and mothers. Low birth weight was defined following the Intergrowth-21 standards. Stunting was evaluated using the Fenton growth chart when the length was below the 10% percentile line of the gestational week. Multivariate regression models were applied to identify factors associated with the nutritional status of infants. We found that 12.4% and 14.1% of infants in our study fell into stunted and underweight categories, respectively. Infants of mothers over 35 years old, having a height lower than 150 cm or experiencing anemia during pregnancy were more likely to be stunted or have low birth weight. Serum albumin deficiency during pregnancy was strongly associated with the infant being underweight (odds ratio [OR] = 2.8, 95% confidence interval [95%CI] 1.1-7.3). Newborns were more likely to be stunted if their mothers had a history of preterm birth (OR = 3.3, 95%CI 1.1-10.2). Maternal nutritional status is closely related to infant malnutrition, particularly in preterm infants. Improving the understanding of mothers regarding prenatal care, reproductive healthcare, adequate nutritional diet, and multi-micronutrient supplements during pregnancy is therefore important.

Measuring effects of screen time on the development of children in the Philippines: a cross-sectional study

BackgroundScreen time in young children is discouraged because of its negative effects on their development. However, excessive screen media use has been rising, particularly during the global pandemic when stay-at-home mandates were placed on young children in several countries. This study documents potential developmental effects of excessive screen media use.MethodThis is a cross-sectional study. Participants were 24 to 36 month old Filipino children recruited through non-probable convenience sampling from August to October 2021. Regression analyses were performed to test the association between screen time and changes in scaled scores for skills and behaviors determined from the Adaptive Behavior Scale and to identify factors associated with increased screen media use.ResultsIncreased odds of excessive use of screen media of children by 4.19 when parents watch excessively and 8.56 times greater odds when children are alone compared to watching with a parent or other children. When adjusted for co-viewing, more than 2 h of screen time is significantly associated with decrease in receptive and expressive language scores. The effects on personal skills, interpersonal relationships and play and leisure skills were only statistically significant at 4 to 5 or more hours of screen time use.ConclusionThe study found that spending no more than 2 h screen time had minimal negative effects on development and that use beyond 2 h was associated with poorer language development among 2 year olds. There is less excessive screen media use when a child co-views with an adult, sibling or other child and when parents likewise have less screen time themselves.

Effects of screen exposure on language skills in children

Objective: To investigate the association between screen exposure and language skills in children aged 2-5 years. Methods: There were 299 children aged 2-5 years, recruited by convenience sampling from those who visited the Center of Children's Healthcare, Children's Hospital, Capital Institute of Pediatrics for routine physical examination from November 2020 to November 2021. Their development status were evaluated by the children neuropsychological and behavioral scale (revision 2016). A self-designed questionnaire for parents was conducted to collect demographic and socioeconomic information and screen exposure characteristics (time and quality). One-way ANOVA and independent sample t test were applied to compare the differences in language development quotient of children with different screen exposure time and quality. Multiple linear regression was used to analyze the correlation between screen exposure time and quality with language developmental quotient. Multivariate Logistic regression was used to analyze the risk of language underdevelopment in children with different screen exposure time and quality. Results: Among 299 children, 184 (61.5%) were boys and 115 (38.5%) were girls, with the age of (3.9±1.1) years. The number of children with daily screen time <60, 60-120 and>120 min was 163 children (54.5%), 86 children (28.8%) and 50 children (16.7%), respectively, with the language development quotients of 94±13, 90±13, 84±14, respectively, demonstrating a statistically significant difference (F=8.92, P<0.001). Logistic regression analysis revealed that screen exposure time of 60-120 and >120 min per day were both risk factors for children's language developmental quotients (OR=2.28, 95%CI 1.00-5.17, P=0.043; OR=3.96, 95%CI 1.86-9.17, P<0.001), and co-viewing and exposure to educational programs were both protective factors for children's language developmental quotients (OR=0.48, 95%CI 0.25-0.91, P=0.024, OR=0.36, 95%CI 0.19-0.70, P=0.003). Conclusions: Excessive exposure screen time and inappropriate screen exposure habits are associated with children's poorer language development. Screen exposure time should be limited and screen use should be rational to promote children's language skills.

Neurodevelopmental Effects of Perinatal TCDD Exposure Differ from Those of Other PCDD/Fs in Vietnamese Children Living near the Former US Air Base in Da Nang, Vietnam

This study reports that children exposed to 2,3,7,8-tetra-chlorodibenzo-p-dioxin (TCDD), the major toxin in Agent Orange, from the breast milk of mothers residing near the former Da Nang US air base in Vietnam may have specific alterations in higher brain functions, resulting in social and communication deficits, including autism spectrum disorder (ASD). After the age of 8 years, girls with high TCDD showed increased attention deficit hyperactivity disorder (ADHD)-like behaviors and altered mirror neuron activity, which is often observed in children with ASD. However, no significant relationship between autistic traits and toxic equivalency values of polychlorinated dibenzodioxins and polychlorinated dibenzofurans (TEQ-PCDD/Fs) was found in these children. Notably, boys with high levels of TEQ-PCDD/Fs showed poor language and motor development in the first 3 years of life, although boys with high TCDD levels did not. However, at 8 years of age, boys with high TCDD showed reading learning difficulties, a neurodevelopmental disorder. These findings suggest that perinatal TCDD exposure impacts social-emotional cognitive functions, leading to sex-specific neurodevelopmental disorders-learning difficulty in boys and ADHD in girls. Future studies with a greater number of children exposed to high levels of TCDD are necessary to estimate the threshold values for neurodevelopmental effects.

Promoting early language development in the Arab world and Sustainable Development Goals 3, 4, 10 and 17

Purpose This commentary describes a multi-national project which addresses gaps in the design and delivery of health and education services in Arabic-speaking countries in relation to early language development, with a focus on Egypt, Jordan, Lebanon and the Palestinian Territories. This includes: (1) co-production with early years professionals and NGOs of approaches to support early language development; (2) development and standardisation of tools to identify monolingual and multilingual Arabic-speaking children at risk of poor language development; and (3) examination of language development in refugee communities. Result The importance of inter-professional partnership and the inclusion of families in planning support for oral language development is highlighted. Arabic versions of the Communicative Development Inventory (CDI) Toddler were developed, and data collected from 1074 Egyptian, Jordanian and Palestinian monolingual infants aged 8–30 months. Data from 201 age-matched Palestinian infants in Lebanese refugee camps highlight inequalities resulting from limited maternal educational opportunities. Data from 230 multilingual Lebanese 2-year-olds enable the interpretation of CDI scores as a function of language exposure. Conclusion This work contributes to the promotion of robust language development for all Arabic-speaking children. This commentary focusses on sustainable development goal (SDG) 3, SDG 4, SDG 10 and SDG 17.

Screen Time of Preschool-Aged Children and Their Mothers, and Children's Language Development.

Although children’s increased screen time has been found to associate with poorer language development, it is open to question which part of language ability screen time specifically associates with. Our aim was to examine the association between children’s screen time (alone and together with a parent), mothers’ screen time, and the different domains of children’s language skills. Mothers reported their children’s (N = 164, aged 2.5 to 4.1 years) screen time and their own on a weekday and a day off. Children’s lexical, phonological, morphological, receptive, and general language abilities were measured using validated tests. The connections between children’s and mothers’ screen time and children’s language skills were analyzed using correlation analyses and linear regression models. The more the children used screen time alone, or the greater the amount of the mothers’ screen time, the weaker the children’s lexical and general language abilities when the children’s age, maternal education level, and birth order were controlled for. We also found cumulative, negative links to the children’s lexical and general language abilities when the amount of their screen time alone and the amount of the mothers’ screen time were simultaneously included in the regression model. The results suggest that it is important to restrict both children’s screen time spent alone and mothers’ screen time.

Effect of CNTNAP2 polymorphism on receptive language in children with autism spectrum disorder without language developmental delay.

AimThe receptive language ability of individuals with autism spectrum disorder (ASD) seems to lag behind expressive language ability. Several autism‐related genes may influence this developmental delay. Polymorphism of one such gene, namely, the contactin‐associated protein‐like 2 gene (CNTNAP2), affects receptive language in individuals with language delay. However, the association between CNTNAP2 polymorphism and receptive language in individuals with no language delay remains unclear.MethodsWe included 59 children with ASD and 57 children with typical development in this study and investigated this association using coarse‐grained exact matching.ResultsWe present the first evidence of an association between CNTNAP2 rs2710102 (A‐allele carrier) and reduced receptive language ability in children with ASD whose language development was not delayed. Similarly, among children with typical development, A‐allele carriers had lower receptive language ability, but the difference was non‐significant.ConclusionsIt is possible that the effect of rs2710102 on receptive language ability is larger in the presence of autism‐related genes. Consequently, we speculate that the effect of rs2710102 on receptive language ability would be exerted in combination with other genes. These findings provide new insights into the genetic interactions between mutations associated with common language disorders and ASD and identify molecular mechanisms and risk alleles that contribute to receptive vocabulary. These findings also provide practical guidance in terms of providing candidate genetic markers that may provide opportunities for targeted early intervention to stratify risk and improve prognosis for poor receptive language development in children with ASD.

Dissecting the Heterogeneity of Autism: Focus on Phelan-McDermid Syndrome

IntroductionAutism spectrum disorders (ASD) are a group of neurodevelopmental disorders that show delays and deficits in the development of multiple brain functions, which are characterized by social communication, poor language development, and restricted and stereotyped patterns of interests and behaviours. ASD affects about 1-2 % of the population and are considered to be highly genetic in nature. Structural variations of chromosomes have been identified in some ASD individuals, most common on chromosome 7q, 15q and 22q.Objectives1-To present a systematic literature review of the natural history of individuals with 22q13.3 deletion syndrome, Phelan-McDermid syndrome (PMS). PMS, increase awareness of different phenotypes 2- Correlation of clinical manifestations of PMS with hypothesized underlying biological mechanisms 3-Rational for novel treatments is inferred through translational neuroscience approaches.MethodsWe have conducted a systematic literature review of the natural history of individuals with PMS, including both cross-sectional and long-term longitudinal analyses and correlation with hypothesized underlying biological mechanisms, including roles in regulation synaptic development, function, and plasticity. This systematic review includes the basis for a promising common pathway for ASD pathogenesis and the clinical implications of novel therapeutic strategies inferred through translational neuroscience approaches.ResultsThis systematic review, therefore, outlines the: (1) Pathophysiological basis and clinical manifestations of PMS; (2) PMS pre-clinical models and applications to ASD; and (3) clinical implications of novel therapeutic strategies.ConclusionsA promising common pathway for ASD pathogenesis and rational for novel treatments is inferred through translational neuroscience approaches. Neurobiological basis for lithium treatment is indeed supported by experimental results and current clinical findings.DisclosureNo significant relationships.

A Deep Learning Approach to Predict Conductive Hearing Loss in Patients With Otitis Media With Effusion Using Otoscopic Images

Otitis media with effusion (OME) is one of the most common causes of acquired conductive hearing loss (CHL). Persistent hearing loss is associated with poor childhood speech and language development and other adverse consequence. However, to obtain accurate and reliable hearing thresholds largely requires a high degree of cooperation from the patients. To predict CHL from otoscopic images using deep learning (DL) techniques and a logistic regression model based on tympanic membrane features. A retrospective diagnostic/prognostic study was conducted using 2790 otoscopic images obtained from multiple centers between January 2015 and November 2020. Participants were aged between 4 and 89 years. Of 1239 participants, there were 209 ears from children and adolescents (aged 4-18 years [16.87%]), 804 ears from adults (aged 18-60 years [64.89%]), and 226 ears from older people (aged >60 years, [18.24%]). Overall, 679 ears (54.8%) were from men. The 2790 otoscopic images were randomly assigned into a training set (2232 [80%]), and validation set (558 [20%]). The DL model was developed to predict an average air-bone gap greater than 10 dB. A logistic regression model was also developed based on otoscopic features. The performance of the DL model in predicting CHL was measured using the area under the receiver operating curve (AUC), accuracy, and F1 score (a measure of the quality of a classifier, which is the harmonic mean of precision and recall; a higher F1 score means better performance). In addition, these evaluation parameters were compared to results obtained from the logistic regression model and predictions made by three otologists. The performance of the DL model in predicting CHL showed the AUC of 0.74, accuracy of 81%, and F1 score of 0.89. This was better than the results from the logistic regression model (ie, AUC of 0.60, accuracy of 76%, and F1 score of 0.82), and much improved on the performance of the 3 otologists; accuracy of 16%, 30%, 39%, and F1 scores of 0.09, 0.18, and 0.25, respectively. Furthermore, the DL model took 2.5 seconds to predict from 205 otoscopic images, whereas the 3 otologists spent 633 seconds, 645 seconds, and 692 seconds, respectively. The model in this diagnostic/prognostic study provided greater accuracy in prediction of CHL in ears with OME than those obtained from the logistic regression model and otologists. This indicates great potential for the use of artificial intelligence tools to facilitate CHL evaluation when CHL is unable to be measured.

A matter of style? Parenting behaviors of mothers of typically-developing children, children with mild intellectual disability, and deaf or hard-of-hearing children

ABSTRACT Are there categorically distinct parenting behaviours that differ between families with children with and without disabilities (mild intellectual disability [MID], deaf or hard of hearing children [DHH])? A study involving 719 children and their families assessed mothers’ responses to the Parenting Styles and Dimensions Questionnaire and children’s language skills at 8 and 9 years. A latent class analysis revealed three discrete classes of parenting behaviours: (1) authoritative, (2) mildly authoritative, and (3) inconsistent or neglecting. The latter class comprised around 10% of the mothers, across all groups. The behaviours that were associated with this class, however, differed across groups: In families with children without disability, it was characterized by inconsistent (authoritarian and permissive) behaviours; in families with children with disabilities, it is best described as neglecting. A high level of education was related to better parenting behaviours, and in children with DHH, neglecting parenting was associated with poor language development.

Risk factors for Australian school-age children in socio-economically disadvantaged populations not passing ear and hearing screening.

Retrospective study. This study describes the outcomes of an ear and hearing screening program for children from lower socio-economic backgrounds (n = 2489; mean age 11.0 years, standard deviation 1.74 years) in New South Wales (NSW), Australia, between 2013 and 2016. Screening was conducted in a quiet room, and the test protocol included otoscopy, 226 Hertz (Hz) tympanometry, and pure tone screening at octave frequencies from 500 Hz to 4000 Hz with a referral criterion of 20 decibels hearing level (dB HL) at any one frequency. Outcomes were categorised into 1) pass; 2) middle ear dysfunction only; and 3) did not pass hearing screen (with or without middle ear dysfunction). Multinomial logistic regression was used to investigate risk factors for hearing loss and middle ear dysfunction. The factors examined were age, gender, socio-educational advantage, quarter of year assessed, non-English speaking background (NESB), Aboriginal status and region. Higher risks of middle ear dysfunction were associated with younger age and seasonal variation, with higher risk in winter and spring months (July-September and October-December, compared with January-March). There were no differences between those from NESB and those with English as a first language, between the Aboriginal population and non-Aboriginal population, or between those who resided within or outside a major city. More than one in 10 school-age children from lower socio-economic backgrounds experience hearing loss (11.5%). Targeted ear and hearing screening programs offer an opportunity to identify hearing loss during critical learning years and seasons, mitigating longer-term effects on education, and social and mental health.

Exploring Mothers' Experience of a Linguistic Feedback Technology for Children at Risk of Poor Language Development: Qualitative Pilot Study.

BackgroundThe early language environment is important for language development and a child’s life-course trajectory. Risk factors associated with poor language development outcomes in children include maternal anxiety and depression, low educational attainment, substance misuse, and low socioeconomic status. Language Environment Analysis (LENA) is a wearable technology designed to promote caregivers’ engagement in supporting their children’s language development. LENA provides quantitative linguistic feedback, which has been shown to improve caregiver language output, thus enhancing a child’s language environment. There is limited research on the uptake of this technology by families with developmentally at-risk children.ObjectiveThis qualitative study aims to explore the conditions under which mothers with children at risk of poor developmental outcomes are willing to adopt the use of LENA to monitor and improve caregiver language output.MethodsUsing a qualitative interpretive design, semistructured, in-depth interviews were conducted with 8 mothers. Participants were recruited purposively to select the maximal variation of socioeconomic and ethnodemographic backgrounds. The transcribed interview data were analyzed thematically and interpretatively. Themes were mapped abductively to an extended Unified Theory of Acceptance and Use of Technology, which included contextual factors for LENA acceptance.ResultsFactors that influenced the intention to use LENA included both technology-specific acceptance factors and contextual factors. Technology acceptance themes included reassurance, feeling overwhelmed, and trust. These themes were mapped to performance expectancy, effort expectancy, and social influence. Contextual themes included emergent success and the intrusion of past difficulties. These were mapped to parenting self-efficacy and perceived risk. The theme of building on success described behavioral intention. Mothers were more likely to adopt LENA when the technology was viewed as acceptable, and this was influenced by parenting self-efficacy and perceived risk.ConclusionsLENA is a technology that is acceptable to mothers with children who are at risk of poor language development outcomes. Further studies are needed to establish LENA’s effectiveness as an adjunct to strategies to enrich a child’s early language environment.

Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay.

Objective: To establish and broaden the phenotypic spectrum of secretory carrier membrane protein (SCAMP5) associated with epilepsy and neurodevelopmental delay. Methods: A Chinese patient was identified at the First Hospital of Peking University, and the three unrelated patients were recruited from two different countries (Italy and United States) through GeneMatcher. SCAMP5 pathogenic variants were identified by whole exome sequencing; clinical data of the patients were retrospectively collected and analyzed. Result: The onset age of seizures was ranged from 6 to 15 months. Patients had different types of seizures, including focal seizures, generalized tonic-clonic seizures and tonic seizure. One patient showed typical autism spectrum disorder (ASD) symptoms. Electroencephalogram (EEG) findings presented as focal or multifocal discharges, sometimes spreading to generalization. Brain magnetic resonance imaging (MRI) abnormalities were present in each patient. Severe intellectual disability and language and motor developmental disorders were found in our patients, with all patients having poor language development and were nonverbal at last follow-up. All but one of the patients could walk independently in childhood, but the ability to walk independently in one patient had deteriorated with age. All patients had abnormal neurological exam findings, mostly signs of extrapyramidal system involvement. Dysmorphic features were found in 2/4 patients, mainly in the face and trunk. All four unrelated patients were found to have the same heterozygous pathogenic SCAMP5 de novo variant (p. Gly180Trp). Conclusion: Epilepsy, severe developmental delay, abnormal neurological exam findings, with or without ASD or variably dysmorphic features and were common in patients with SCAMP5 variant. The onset time and type of seizure varied greatly. The EEG and brain MRI findings were not consistent, but diverse and nonspecific. The motor ability of patients with heterozygous SCAMP5 variant might have a regressive course; language development was more severely affected.

Virchow Seckel Syndrome: The First Case in Iraq and the Early Documentation of the Syndrome in the Literature.

Abstract Background: Virchow Seckel syndrome or bird-headed dwarfism syndrome is a very rare genetic syndrome characterized by intrauterine and postnatal growth retardation with very poor growth of the body and head, narrow bird-like face with a peculiar nose, mental retardation and other congenital abnormalities. An autosomal recessive inheritance and a heterogeneous nature of the condition have been expected. This Virchow Seckel syndrome has not been reported in Iraq. Patients and methods: Four years and four months old girl was referred to the pediatric neuropsychiatry clinic of the Children Teaching Hospital of Baghdad Medical City because of significant growth and developmental retardation. The child was studied and the relevant medical literature was reviewed with aim of describing the early documentation of her rare condition in the medical literature. Results: The girl weight at birth was about 1.5 kilograms. She was experiencing very poor growth and her height was 72 cm and her weight 6 kilograms. She had low set ears, small head with narrow face, downward slanting eyebrows and a peculiar nose. She was also mentally retarded with poor language development. Family history was negative for similar cases. Bone age assessment was performed using radiographs of the left and wrist, left elbow, hips and knee and showed delayed bone age of about one year. Conclusion: During the first century of documentation of this syndrome (1882-1981, about 35 were reported in the literature and in this paper, the first case of this syndrome in Iraq is described.

Cognitive and Behavioral Functioning in Hearing-Impaired Children with and without Language Delay.

Poor language development in patients with sensorineural hearing loss (SNHL) may be related to an auditory deficit and/or other neurologic condition that influences the ability to communicate. A retrospective chart review of children (mean age = 4.0 years) with congenital, bilateral SNHL was performed to assess for linguistic and nonlinguistic neurodevelopmental differences between those who were language-impaired (LI) versus non-language-impaired (NLI). Language, neurodevelopmental functioning, and behavior were assessed. Twenty-two patients were identified: 12 were LI and 10 were NLI. Average pure-tone thresholds and nonverbal intelligence were not different between the language groups, but the LI group demonstrated significantly lower median overall adaptive skills, personal living skills, and motor skills. Behavioral dysregulation was significantly higher in the LI versus NLI group (58% vs 10%; P = .031), although the median neurodevelopmental scores did not differ significantly. These findings introduce the possibility that nonlinguistic processing deficit(s) may be confounding the ability to develop language.

A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem

We report the case of a Caucasian Spanish boy, who showed profound neonatal hypotonia, feeding difficulties, apnea, severe developmental delay, epilepsy, bilateral convergent strabismus, poor verbal language development and a large brainstem. Whole-exome sequence uncovered a novel de novo mutation in the purine-rich element binding protein A gene (PURA; NM_005859.4:c.72del:p.(-Gly25AlafsTer53)) that encodes the transcriptional activator protein Pur-alpha (PURA). Mutations in this gene have been identified in patients with PURA syndrome, a rare disorder characterized by an early hypotonia, developmental delay, severe intellectual disability with or without epilepsy, and disability in expressive language development. Although, up to 75 cases have been identified worldwide, to the best of our knowledge, this is the first patient described with a brainstem larger than normal. In conclusion, our data expand both geneticand phenotypic spectrum associated with PURA gene mutations.