The co-occurrence of autism spectrum disorder (ASD) and epilepsy is a complex neurological condition that presents significant challenges for both patients and clinicians. ASD is a group of complex developmental disorders characterized by the following: (1) Social communication difficulties: challenges in understanding and responding to social cues, initiating and maintaining conversations, and developing and maintaining relationships. (2) Repetitive behaviors: engaging in repetitive actions, such as hand-flapping, rocking, or lining up objects. (3) Restricted interests: focusing intensely on specific topics or activities, often to the exclusion of other interests. (4) Sensory sensitivities: over- or under-sensitivity to sensory input, such as sounds, touch, tastes, smells, or sights. These challenges can significantly impact individuals’ daily lives and require specialized support and interventions. Early diagnosis and intervention can significantly improve the quality of life for individuals with ASD and their families. Epilepsy is a chronic brain disorder characterized by recurrent unprovoked (≥2) seizures that occur >24 h apart. Single seizures are not considered epileptic seizures. Epilepsy is often idiopathic, but various brain disorders, such as malformations, strokes, and tumors, can cause symptomatic epilepsy. While these two conditions were once considered distinct, growing evidence suggests a substantial overlap in their underlying neurobiology. The prevalence of epilepsy in individuals with ASD is significantly higher than in the general population. This review will explore the epidemiology of this comorbidity, delve into the potential mechanisms linking ASD and epilepsy, and discuss the implications for diagnosis, treatment, and management.

Background: Craniofrontonasal dysplasia (CFND) is an X-linked developmental disorder caused by mutations in the EFNB1 gene located on chromosome Xq13. This gene encodes ephrin-B1, a ligand for Eph receptors, which is involved in cell signaling pathways and the development of the nervous and vascular systems, as well as facial and cranial structures. Paradoxically, the syndrome manifests with greater severity in heterozygous females, whereas hemizygous males typically present with mild or no abnormalities. Methods and Results: We report the case of a late preterm female neonate with dysmorphic features at birth, who subsequently developed necrotizing enterocolitis (NEC) caused by thrombosis of the superior mesenteric artery. Extensive bowel resection led to short bowel syndrome, resulting in cholestatic liver disease, malabsorption, and growth impairment. Array-comparative genomic hybridization (a-CGH) analysis identified a ~791 Kb microduplication at Xq13.1, encompassing the EFNB1 gene, confirming the diagnosis of CFND. She was enrolled in a multidisciplinary follow-up program and, at 2 years of age, presents with marked growth and neurodevelopmental delay. Conclusions: This report describes a rare association between CFND and NEC caused by superior mesenteric artery thrombosis. To the best of our knowledge, no previously reported cases of CFND associated with thrombosis or thrombosis-related conditions, including NEC, have been identified. This is based on a literature review (2004–2025) performed using PubMed and Scopus, and limited to English-language case reports and reviews.

Background: Interstitial deletions of chromosome 1q are rare, with about 30 cases reported in the literature. The phenotypical features of the affected subjects described so far include microcephaly, pre- and post-natal growth retardation, psychomotor delays, ear anomalies, brachydactyly, in addition to small hands and feet, and rarely a congenital diaphragmatic hernia (CDH). Case presentation: Here, we report on a neonate with CDH, dysmorphic features, and multiple midline anomalies including a cleft palate, in whom an array-comparative genomic hybridization (a-CGH) analysis allowed the identification of an interstitial deletion of the long arm of chromosome 1. Our patient underwent a surgical correction of CDH on the fourth day of life, while that of cleft palate has been planned to be performed at 12 months. Conclusions: The few subjects suffering such rearrangement reported to date, along with the clinical and genetic profile of the present newborn, show that 1q deletions should be considered within the context of the “interstitial 1q deletion syndrome”. Comparing our case with those described in previous studies, the involved genomic regions and the phenotypic traits are partially overlapping, although the clinical picture of the present patient is among the few ones including a congenital diaphragmatic hernia within the phenotypical spectrum. A more extensive comparative analysis of a larger number of patients with similar genetic profiles may allow for a more precise clinical and genomic characterization of this rare syndrome, and for genotype–phenotype correlations.

Intellectual disability (ID) is frequently accompanied by a range of neuropsychiatric and neurological comorbidities, including anxiety, depression, autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), sleep disturbances, and epilepsy. Conventional pharmacological treatments often provide partial relief and may be associated with adverse effects, prompting interest in adjunctive strategies such as phytotherapy. This review examines the current evidence on selected plant-derived compounds—particularly Crocus sativus (saffron), Bacopa monnieri, Curcuma longa (curcumin), and other botanicals—in the management of disorders associated with ID. Mechanistic pathways, clinical evidence, and safety considerations are critically discussed. Although some phytotherapeutic interventions have shown preliminary evidence of potential benefit and may modulate pathways involving neuroinflammation, oxidative stress, and neurotransmitter function, direct clinical evidence in individuals with ID remains limited. Further well-designed randomized controlled trials, particularly in ID-specific populations, are needed to establish efficacy, safety, optimal dosing, and clinical applicability.

Münchhausen syndrome by proxy (MBPS), also commonly referred to as Medical Child Abuse (MCA), and now officially classified in the DSM-5-TR as Factitious Disorder Imposed on Another (FDIOA), is a severe condition that involves a caregiver who fabricates or induces signs and symptoms of physical, psychiatric, or developmental disorders in a child or other dependent victim. The primary motivation is the achievement of psychological gain—such as attention and sympathy—rather than obvious external benefits. Unfortunately this is frequently observed by health teams in clinics, hospital wards and emergency rooms and undoubtedly, these conditions generate high costs and unnecessary procedures in health care facilities and sometimes can evolve into the death of the child, depending on the gravity of the illness or the abuse. It is important for both physical and mental health of the children to diagnose as soon as possible this disorder and that’s why our team decided to write this review, in order to provide a complete and updated manuscript about such often misdiagnosed pathology so dangerous for children.

Background: Congenital diaphragmatic hernia (CDH) represents one of the most critical neonatal emergencies, whose timely recognition and appropriate management are essential to ensure patient survival. Genetic investigations play a crucial role for accurate diagnostic assessment, especially in those cases associated with other congenital defects and/or dysmorphic features. Interstitial deletions of chromosome 1q are rare, with about 30 cases reported in the literature. The phenotypical features of the affected subjects described so far include microcephaly, pre- and postnatal growth retardation, psychomotor delay, ear anomalies, brachydactyly, in addition to small hands and feet and rarely congenital diaphragmatic hernia (CDH). Here, we report on a neonate with CDH, dysmorphic features, and multiple midline anomalies, in whom array-comparative genomic hybridization (a-CGH) analysis allowed the identification of an interstitial deletion of the long arm of chromosome 1. Case presentation: The proband is a male infant, born late preterm at 36⁺¹ weeks, with prenatal diagnosis of congenital diaphragmatic hernia (CDH) for which parents refused further genetic investigations. At birth physical examination revealed dysmorphic features and multiple midline anomalies, including cleft palate, pectus excavatum, and ostium primum type atrial septal defect, in addition to hypotonia. Cranial ultrasound showed poor gyral development. a-CGH identified a deletion of approximately 12 Mb on the long arm of chromosome 1, within the region 1q31.1-q32.1, thereafter documented as de novo. On the fourth day of life, he underwent surgical correction of CDH. At about one month of age, the infant was discharged and enrolled in a multidisciplinary follow-up, during which an impaired growth has been evidenced. During the last neuropsychiatric evaluation at the age of 8 months, the child showed mild hypotonia and immature manual exploration. Head control was present but inconsistent. Trunk control was not yet developed, and lower limb positioning exhibited flexion, external rotation and varus attitude of feet. He does not show any further clinical anomalies, and laboratory tests as well as US multiorgan and neurosensorial evaluations do not put in evidence other abnormalities to date. The surgical correction of cleft palate is currently planned to be performed at one year of age. Conclusions: The few cases of chromosome 1q deletions reported to date, along with the clinical and genetic profile of the present neonate, point out that 1q deletions should be considered within the context of "interstitial 1q deletion syndrome". Comparing our case with those described in previous studies, the involved genomic regions and the phenotypic traits are partially overlapping, although the clinical picture of the present patient is among the few ones including congenital diaphragmatic hernia within the phenotypical spectrum. A more extensive comparative analysis of a larger number of patients with similar genetic profiles may allow for a more precise clinical and genomic characterization of this rare syndrome, and for genotype-phenotype correlations.