1. Björlin Avdic H, Butwicka A, Nordenström A, Almqvist C, Nordenskjöld A, Engberg H, Frisén L. Neurodevelopmental and psychiatric disorders in females with Turner syndrome: a population-based study. Journal of neurodevelopmental disorders. 2021; 13(1): 51.

BACKGROUND: Turner syndrome is the result of the partial or complete absence of an X chromosome in phenotypic girls. This can cause an array of medical and developmental difficulties. The intelligence quotient in females with Turner syndrome has previously been described as uneven, but considered within normal range. Although their social, intellectual, and psychiatric profile is described, it is unclear to what extent these females meet the clinical criteria for neurodevelopmental or psychiatric diagnoses. The aim of this study was to examine the prevalence of neurodevelopmental and psychiatric disorders in females with Turner syndrome. METHODS: A retrospective cohort study was performed with a total of 1392 females with Turner syndrome identified through the Swedish National Patient Register and compared with 1:100 age- and sex-matched controls from the general population. The associations between Turner syndrome and diagnoses of neurodevelopmental and/or psychiatric disorders were calculated using conditional logistic regression and is presented as estimated risk (odds ratio, OR, 95% confidence interval, CI) in females with Turner syndrome compared with matched controls. RESULTS: Females with Turner syndrome had a higher risk of neurodevelopmental or psychiatric disorder (OR 1.37, 95% CI 1.20-1.57), an eightfold increased risk of intellectual disability (OR 8.59, 95% CI 6.58-11.20), and a fourfold increased risk of autism spectrum disorder (OR 4.26, 95% CI 2.94‑6.18) compared with the controls. In addition, females with Turner syndrome had twice the risk of a diagnosis of schizophrenia and related disorders (OR 1.98, 95% CI 1.36-2.88), eating disorders (OR 2.03, 95% CI 1.42-2.91), and behavioral and emotional disorders with onset in childhood (OR 2.01, 95% CI 1.35-2.99). CONCLUSIONS: Females with Turner syndrome have an increased risk of receiving a diagnosis of neurodevelopmental or psychiatric disorder. This warrants extensive assessment of intellectual and cognitive functions from early age, and increased psychiatric vigilance should be a part of lifelong healthcare for females with Turner syndrome.

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2. Bruel AL, Vitobello A, Thiffault I, Manwaring L, Willing M, Agrawal PB, Bayat A, Kitzler TM, Brownstein CA, Genetti CA, Gonzalez-Heydrich J, Jayakar P, Zyskind JW, Zhu Z, Vachet C, Wilson GR, Pruniski B, Goyette AM, Duffourd Y, Thauvin-Robinet C, Philippe C, Faivre L. ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum. European journal of human genetics : EJHG. 2022; 30(1): 111-6.

ITSN1 plays an important role in brain development. Recent studies in large cohorts of subjects with neurodevelopmental disorders have identified de novo variants in ITSN1 gene thereby suggesting that this gene is involved in the development of such disorders. The aim of this study is to provide further proof of such a link. We performed trio exome sequencing in a patient presenting autism, intellectual disability, and severe behavioral difficulties. Additional affected patients with a neurodevelopmental disorder harboring a heterozygous variant in ITSN1 (NM_003024.2) were collected through a worldwide collaboration. All patients underwent detailed phenotypic and genetic assessment and data was collected and shared by healthcare givers. We identified ten novel patients from eight families with heterozygous truncating or missense variants in ITSN1 gene. In addition, four previously published patients from large meta-analysis studies were included. In total, 7/14 patients presented a de novo variant in ITSN1. All patients showed neurodevelopmental disorders from autism spectrum disorders (90%), intellectual disability (86%), and epilepsy (30%). We demonstrated that truncating variants are in the first half of ITSN1 whereas missense variants are clustered in C-terminal region. We suggest ITSN1 gene is involved in development of an autism spectrum disorder with variable additional neurodevelopmental deficiency, thus confirming the hypothesis that ITSN1 is important for brain development.

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3. Duchan E. Child Developmental Delays and Disorders: Motor Delay. FP essentials. 2021; 510: 11-6.

Gross motor development in infants and children, including loss of cerebral neuromotor maturational markers (ie, primitive reflexes) and achievement of motor developmental milestones, follows a predictable sequence as the central nervous system matures. Because of this predictability, routine well-child visits provide an opportunity to assess development and identify motor delays through physical examination and screening with standardized tools. Family physicians are well suited to evaluate for risk factors that may adversely affect motor development, including review of the medical and social history of the child and the parents or caregivers for such factors. After a gross motor delay is identified, the physician should determine the likely cause of the delay, identify any anatomic etiology, and assess for features that may require further evaluation. This may include laboratory tests, imaging, or referral to a subspecialist. The patient then should be referred for early intervention.

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4. Franke B, Fombonne E, Ronald A. Editorial: The new genetics of autism. Journal of child psychology and psychiatry, and allied disciplines. 2021; 62(11): 1271-3.

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5. Germann J, Gouveia FV, Brentani H, Bedford SA, Tullo S, Chakravarty MM, Devenyi GA. Involvement of the habenula in the pathophysiology of autism spectrum disorder. Scientific reports. 2021; 11(1): 21168.

The habenula is a small epithalamic structure with widespread connections to multiple cortical, subcortical and brainstem regions. It has been identified as the central structure modulating the reward value of social interactions, behavioral adaptation, sensory integration and circadian rhythm. Autism spectrum disorder (ASD) is characterized by social communication deficits, restricted interests, repetitive behaviors, and is frequently associated with altered sensory perception and mood and sleep disorders. The habenula is implicated in all these behaviors and results of preclinical studies suggest a possible involvement of the habenula in the pathophysiology of this disorder. Using anatomical magnetic resonance imaging and automated segmentation we show that the habenula is significantly enlarged in ASD subjects compared to controls across the entire age range studied (6-30 years). No differences were observed between sexes. Furthermore, support-vector machine modeling classified ASD with 85% accuracy (model using habenula volume, age and sex) and 64% accuracy in cross validation. The Social Responsiveness Scale (SRS) significantly differed between groups, however, it was not related to individual habenula volume. The present study is the first to provide evidence in human subjects of an involvement of the habenula in the pathophysiology of ASD.

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6. Keirns CC. Child Developmental Delays and Disorders: Autism Spectrum Disorder. FP essentials. 2021; 510: 28-34.

The understanding of autism spectrum disorder (ASD) has changed over the past generation, with recognition of a broader spectrum of severity and a wide diversity of clinical manifestations and co-occurring conditions. Estimates of ASD prevalence in the United States have increased from 2 to 4 per 10,000 in the 1960s to 1 in 54 today. Early screening and diagnosis followed by intensive speech and behavioral therapies can make a substantial difference in outcomes for children with ASD.

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7. Martínez-González AE, Cervin M, Piqueras JA. Relationships Between Emotion Regulation, Social Communication and Repetitive Behaviors in Autism Spectrum Disorder. Journal of autism and developmental disorders. 2021: 1-9.

The relationship between emotion regulation, social interaction and different types of restricted and repetitive behaviors is poorly understood. In the present study, structural equation modeling based on information about 239 individuals with autism was used to examine whether emotion regulation and social communication were associated with self-injury and stereotyped behaviors. Results showed that poor emotion regulation had a unique association with self-injury while difficulties with social communication was uniquely associated with stereotyped behaviors. Emotion regulation and social communication were strongly associated and self-injury and stereotyped behaviors moderately associated. This implies that these types of behaviors are often expressions of broader negative emotional states in autism. Treatments that help improve coping and social communication strategies may benefit individuals with autism.

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8. Moosreiner A, Polfuss M, Forseth B. Quality of Dietary Intake in Children With Developmental Disabilities: A Pilot Study. WMJ : official publication of the State Medical Society of Wisconsin. 2021; 120(3): 195-9.

BACKGROUND: Children with developmental disabilities have a high prevalence of overweight and obesity. The role and contribution of their diet to weight status is poorly understood. OBJECTIVES: This pilot study describes the dietary quality of children with spina bifida and Down syndrome compared with typically developing peers. METHODS: Dietary intakes of 8 children with spina bifida or Down syndrome and 4 children without developmental disabilities, aged 8 to 18 years, were collected using six 24-hour dietary recalls through Facetime. Dietary quality was assessed by application of the Healthy Eating Index (HEI). RESULTS: Children with spina bifida and Down syndrome had higher HEI scores when compared to typically developing peers (48.3, 52.9, and 46.2, respectively) and vegetable consumption (1.9, 2.6, and 1.4, respectively). All groups had undesirable intakes of saturated fat, added sugar, and sodium. Within this small sample, children with spina bifida and Down Syndrome had similar diet quality to their typically developing peers. CONCLUSIONS: Further investigation in a larger sample is recommended to support the development of methods to optimize weight management in children with developmental disabilities.

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9. Naguy A. Major Depressive Disorder in Autism Spectrum Disorder: A Double Whammy. The primary care companion for CNS disorders. 2021; 23(6).

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10. Othman A. Child Developmental Delays and Disorders: Speech and Language Delay. FP essentials. 2021; 510: 17-21.

Between 5% and 12% of children ages 2 to 5 years are diagnosed with a speech or language delay. Fifty percent of these children experience delays that persist into adolescence, and face educational and occupational challenges later in life. The causes of speech and language delay vary. Some children are born with physical or physiologic conditions that impede speech and language development, whereas others have cognitive or developmental conditions, such as autism spectrum disorder. Risk factors include male sex, prematurity, low birth weight, late birth order, larger family size, and maternal intimate partner (ie, domestic) violence. Although there is no required screening or universally recommended screening tool for speech or language delay, reliable milestone indicators and parent and physician questionnaires can help identify children in need of diagnostic evaluation. If further screening is warranted or if parental concern exists beyond the well-child visit, local resources are available for evaluation and intervention. These include agencies and school districts, as well as speech and language pathology subspecialists.

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11. Plate S, Yankowitz L, Resorla L, Swanson MR, Meera SS, Estes A, Marrus N, Cola M, Petrulla V, Faggen A, Pandey J, Paterson S, Pruett JR, Jr., Hazlett H, Dager S, St John T, Botteron K, Zwaigenbaum L, Piven J, Schultz RT, Parish-Morris J. Infant vocalizing and phenotypic outcomes in autism: Evidence from the first 2 years. Child development. 2022; 93(2): 468-83.

Infant vocalizations are early-emerging communicative markers shown to be atypical in autism spectrum disorder (ASD), but few longitudinal, prospective studies exist. In this study, 23,850 infant vocalizations from infants at low (LR)- and high (HR)-risk for ASD (HR-ASD = 23, female = 3; HR-Neg = 35, female = 13; LR = 32, female = 10; 80% White; collected from 2007 to 2017 near Philadelphia) were analyzed at 6, 12, and 24 months. At 12 months, HR-ASD infants produced fewer vocalizations than HR-Neg infants. From 6 to 24 months, HR-Neg infants demonstrated steeper vocalization growth compared to HR-ASD and LR infants. Finally, among HR infants, vocalizing at 12 months was associated with language, social phenotype, and diagnosis at age 2. Infant vocalizing is an objective behavioral marker that could facilitate earlier detection of ASD.

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12. Roy A. How can psychiatrists make mental health services more accessible for people with autism?. BJPsych open. 2021; 7(6): e197.

Unrecognised psychiatric and medical conditions can lead poorer health outcomes, lower health-related quality of life and increased mortality in people with autism, compared with the general population. A reasonable adjustment required in mainstream services is patient prioritisation by clinicians with knowledge and understanding of autism. Developed as part of the revised autism strategy, the recently developed autism competency framework lists the range of capabilities that psychiatrists who treat people with autism should have. Psychiatrists could lead the workforce transformation required to make the reasonable adjustments to mainstream mental health services needed to improve outcomes for people with autism.

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13. Sutter M. Child Developmental Delays and Disorders: Failure to Thrive. FP essentials. 2021; 510: 22-7.

Failure to thrive (FTT), or faltering growth, describes a complex group of clinical scenarios that manifest as abnormalities of growth. A thorough history and physical examination typically reveal the diagnosis, so laboratory tests and diagnostic imaging often are unnecessary. Hospitalization rarely is needed. The differential diagnosis includes gastrointestinal, metabolic, endocrine, and genetic conditions; feeding difficulties; developmental and sensory issues; and family dynamics. Children with FTT are at risk of future growth and development problems. Family physicians play an important role in the care of children with growth issues, as they care for the entire family, offer a holistic perspective, and have a thorough knowledge of community resources. In recent years, the multifactorial nature of FTT has been recognized, as has the importance of the use of multidisciplinary teams in treatment. Counseling on enhanced nutrition and referral to occupational and speech therapy subspecialists when needed are well within the scope of family physician practice. Home visitation programs can make a significant difference for patients with FTT and their families. If needed, many children’s hospitals offer multidisciplinary feeding teams. Children without significant medical comorbidities who are treated with enhanced nutrition have a good prognosis for returning to a healthy baseline.

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