Children with developmental coordination disorder (DCD) and joint hypermobility could present an overlap of symptoms and motor functional difficulties. The link between these two clinical conditions has not yet been clarified. Recent studies reported a high incidence (30–50%) of motor delay in children who are referred to hypermobility and of enhanced joint hypermobility in children with DCD. The aim of this study was to provide a critical review of the literature outlining the association between DCD or limited motor performance and joint hypermobility. Studies were eligible for inclusion if they were written in English and human-based. All the studies were first selected, looking for the presence of a clinical association between developmental coordination disorder or motor performance and hyperlaxity and reporting details of outcome. After a review of the full texts, 16 articles for a total of 1898 children met the inclusion criteria. In general, there was evidence of a higher incidence of motor delay or DCD in children who are referred to hypermobility and of enhanced joint hypermobility in children with DCD with similar range of functional difficulties. These results could influence the way to support children with rehabilitation and the type of intervention according to the prevalence of one of the two conditions.
Background and Objectives: Preterm infants are at higher risk of neurodevelopmental impairment both at preschool and school ages, even in the absence of major neurological deficits. The early identification of children at risk is essential for early intervention with rehabilitation to optimize potential outcomes during school years. The aim of our study is to assess cognitive outcomes at preschool age in a cohort of low-risk very preterm infants, previously studied at 12 and 24 months using the Griffiths scales. Materials and Methods: Sixty-six low-risk very preterm infants born at a gestational age of <32 weeks were assessed at 12 and 24 months corrected age using the Griffiths Mental Development Scales (second edition) and at preschool age with the Wechsler Preschool and Primary Scales of Intelligence (third edition) (WPPSI-III). Results: At 12 and 24 months and at preschool age, low-risk very preterm infants showed scores within normal ranges with similar scores in males and females. A statistically significant correlation was observed in the general developmental quotient between 12 and 24 months; a further significant correlation was observed between the early cognitive assessments and those performed at preschool age, with a better correlation using the assessments at 24 months. Conclusion: The present study showed a favourable trajectory of cognitive development in low-risk very preterm infants, from 12 months to preschool age.
Autism spectrum disorder (ASD) and joint hypermobility (JH) are considered two different etiological and clinical entities that most often appear in childhood. Despite growing increased research showing a co-occurrence for both conditions, a link between them is rarely established in clinical settings, and the relationship between ASD and JH has not so far been completely investigated in all age groups of ASD children. This preliminary study examined a cohort of 67 non-syndromic ASD children aged 2–18 years (sex ratio M:F = 12:1) showing different degrees of cognitive impairment and autism severity, using the Beighton scale and its revised version. A total of 63% of ASD patients aged 2–4 years and 73% of ASD patients aged ≥5 years presented significant scores of hypermobility. No significant correlation was found comparing total laxity score and cognitive assessments and severity of autistic symptomatology (p > 0.05). The results suggest that JH could be considered as a clinical characteristic of ASD patients and it needs to be assessed in order to schedule a better rehabilitation program.
Hikikomori is a form of social withdrawal lasting more than 6 months with significant associated functional impairment. To date, numerous studies confirm the presence of this condition not only in Japan, where it was first described, but also globally abroad. This is an underestimated clinical condition, and it is emerging especially in adolescents and young adults, representing an increasing management problem for families and society. Prevalence ranges from 1.1% to 6.7%. Hikikomori can be associated with other neurodevelopmental disorders, such as Autism Spectrum Disorder (ASD). Indeed, ASD and hikikomori share numerous characteristics confirmed by functional neuroimaging studies that have highlighted in both conditions the presence of alterations in cerebral regions related to social functioning. We present a case report regarding the history of a 14-year-old girl with characteristics compatible with ASD and hikikomori. At present, there are no specific treatments approved for hikikomori in ASD patients. Further studies are necessary to understand the link between the two conditions, the boundary, and possible overlap.
Objective: Maternal 15q11-q13 duplication syndrome (Dup15q) has been associated with 0.5% of all cases of autism spectrum disorder (ASD). There is no established protocol for the neuropsychiatric evaluation of individuals with this syndrome. This study aims to define a protocol incorporating gold standard assessments. Methods: Six individuals with Dup15q underwent assessment of cognitive and adaptive functioning (Leiter-3, Adaptive Behavior Assessment System—Second Edition), autistic traits (Autism Diagnostic Observation Schedule-2 [ADOS-2], Autism Diagnostic Interview-Revised [ADI-R], Social Communication Questionnaire, Social Responsiveness Scale, Repetitive Behaviors Scale-R), co-occurring psychopathology (Kiddie Schedule for Affective Disorders and Schizophrenia, Child Behavior Checklist, Swanson, Nolan, and Pelham–Forth Edition, Sleep Disturbance Scale for Children), and family functioning (Parenting Stress Index-Short Form, PedsQL). Parents were required to fill the Symptom Checklist 90 (SCL-90) and Autism-Spectrum Quotient (AQ) to gather information about their psychiatric co-occurrences and autistic traits. A molecular analysis was performed to confirm the genetic alteration. Results: Two siblings inherited the duplication through maternal transmission, whereas 4 individuals had a de novo maternal duplication. No participant exhibited preserved cognitive abilities; 4 of 5 showed below average adaptive functioning and 2 of 6 received a diagnosis of ASD. ADOS-2 revealed greater difficulties in the Social Affect domain compared with the Repetitive and Restricted Behaviors domain ( p < 0.05), findings confirmed by ADI-R ( p < 0.05). K-SADS indicated clinical scores in 5 individuals, with anxiety disorder in 3 participants. High levels of parental stress and a poor quality of life were reported. The mother carrier of the duplication showed clinical scores on the “Positive Symptom Total” of the SCL-90 and on the AQ. Conclusion: Individuals with an in tandem 15q-11q13 duplication seems to exhibit cognitive and adaptive difficulties along with psychiatric co-occurrences and autistic traits. Parents, with or without the duplication, may experience psychopathological difficulties and impaired family functioning.