Background and Objectives: Hemiplegic or unilateral cerebral palsy (UCP) is primarily characterized by motor impairment, mainly affecting the upper limb. Research has centered on factors influencing the varying degrees of motor deficit in UCP, using neuroscience advancements for in vivo exploration of brain structure (morphometry) and cortical reorganization (functional magnetic resonance imaging (fMRI)). This study aims to evaluate functional activation in the motor cortex in UCP and to explore how lesion characteristics and timing affect neuroplasticity and motor function. Materials and Methods: Between 2017 and 2021, structural and functional MRIs were performed on 44 UCP patients (mean age 15.5 years, 24 males, 20 females), all with Manual Ability Classification System (MACS) levels I-III and Intelligence Quotient (IQ) ≥ 50. The lesion characteristics of size, type, and time of occurrence (ante-, peri-, or early postnatal) were analyzed. An association was sought between the characteristics of the lesion and the degree of motor deficit of the upper limb, as determined by the MACS level. fMRI assessed cortical activation during a finger-tapping task for the paretic hand and compared activation patterns based on lesion characteristics. Results: Six lesion types were identified, with arterial ischemic stroke being the most common and largest in volume. Lesion size strongly correlated with patients’ MACS levels, while lesion type and timing showed no association with the severity of motor impairment classified by MACS. Motor reorganization varied, with activation occurring ipsi-, contra-, or bilaterally to the affected hand, depending on lesion size and type. Smaller, subcortical lesions primarily showed ipsilesional activation, while larger, cortical lesions did not exhibit a specific group activation, possibly due to varying individual reorganization. No association was found between the lesion timing and the reorganization model. Conclusions: Motor functional reorganization in UCP is closely linked to lesion characteristics, with smaller, subcortical lesions favoring typical organization in the contralateral motor cortex. The timing of the lesion does not significantly affect cortical reorganization. Lesion size was a key determinant of motor function, whereas lesion type (e.g., ischemic stroke) and timing (early vs. late occurrence) were less critical for predicting functional outcome.

Diagnosis of autism spectrum disorder (ASD) before the age of three years is a challenge. Analyzing the present practice may help reaching that goal. Aim: To investigate developmental abnormalities and diagnostic pathway of ASD patients in pediatric practice. Methods: Retrospective cross-sectional study of 192 children aged 13 months to 17 years 11 months (average 4 years 9 months), investigated in an outpatient and hospital setting from January 2015 to June 2018 by a semi-structured history and clinical examination, and diagnosed with ASD by Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5) criteria. Results: Behavioral peculiarities were detected in the history of the first two years of life in 74.8% of the subjects. The first developmental abnormalities were noticed by the parents at ages from 8 to 36 months (mean 15.6 months) and were predominantly in speech (in 94.6%) and non-verbal communication (11.3%). Developmental regression was reported in 42.1% of the patients occurring between the ages of 6 and 50 months (mean 17.9 months), affecting most commonly speech (88.4% of cases), non-verbal communication (29.2%), and behavior (12.8%). By history, the first manifestations of ASD were noticed at ages from 8 months to 84 months (mean 18.5 months), and were disorders of expressive speech (in 66.7% of cases), receptive speech (in 45.8%), non-verbal communication (35.4%), behavior (27.6%), play (8.9%), socialization (5.7%), and joint attention (2.1%). The most common motive for specialized consultation was delay in language development—in 84.6% of children. The age of ASD diagnosis varied between 12 and 132 months (mean 39.7 months), and the time period between first ASD manifestations and diagnosis was in the range of 0 to 79 months (mean 23.3 months). Many symptoms of abnormal social communication, unnoticed by parents, were detected objectively in more than 95% of the cases—absent or rare spontaneous or reciprocal smile; lack of sharing of interest or affect; abnormal eye contact; lack of finger pointing; lack of gaze to a pointed object; poor facial expressions; lack of imaginary play, etc. Conclusions: Almost two years are needed for diagnosing abnormal development in other domains besides speech in ASD patients. Diagnosis before the age of three years can be achieved by focusing parents’ and pediatricians’ attention on social communication and behavior in patients with speech delay or developmental regression.

X-linked intellectual disability (XLID) is a well-recognized group of neurodevelopmental disorders, with pathogenic variants in X-chromosomal genes accounting for approximately 16% of intellectual disability cases in males. Clinical expression in females is variable and depends on patterns of X-chromosome inactivation. We describe three affected individuals from a single family with XLID caused by a confirmed duplication of the Xq28 region, including the genes SLC6A8, L1CAM, MECP2, TKTL1, FLNA , and GDI1 . Two male siblings presented with severe phenotypes, including profound intellectual disability, severe speech impairment, behavioral issues, facial dysmorphism, spastic cerebral palsy, epilepsy, and cutaneous abnormalities. Their mother showed mild intellectual disability and skin manifestations. Family history suggested additional affected male relatives with a similar or even more severe clinical presentation. The duplication of multiple dosage-sensitive genes within the Xq28 region likely explains the multisystem involvement and the marked phenotypic variability observed between male and female family members. This report highlights the importance of considering Xq28 duplication, the most common X-linked copy number variation associated with intellectual disability, in the differential diagnosis of families with X-linked intellectual disability, especially if it is accompanied by additional neurological impairment.