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The aim of the study was to retrospectively evaluate the consistency of longitudinal findings on intellectual functioning in DMD boys and their relationship to behavioral and neuropsychiatric difficulties. The cohort included 70 patients of age 3 to 17 years with at least two assessments using the Wechsler scales. CBCL and clinical observation of behavior were also performed. Changes in total intelligence quotient were interpreted as stable or not stable using the reliable-change method. On the first assessment 43/70 had normal quotients, 18 borderline, 5 mild, and 4 moderate intellectual disability, while 27/70 had no behavioral disorders, 17 had abnormal CBCL, and 26 patients had clear signs of attention deficits despite normal CBCL. The remaining seven were untestable. The mean total intelligence quotient change in the cohort was -2.99 points (SD: 12.29). Stable results on TIQ were found in 63% of the paired assessments. A third of the consecutive cognitive assessments showed a difference of more than 11 points with changes up to 42 points. Boys with no behavioral/attention disorder had smaller changes than those with attention (p = 0.007) and behavioral disorders (p = 0.002). Changes in IQ may occur in Duchenne and are likely to be associated with behavioral or attention deficits.

Background: The CHOP-INTEND is an established outcome measure used to assess motor function in young and weak SMA patients previously validated in type I infants older than 3 months. Objective: The aim of our study was to assess the maturation of the CHOP-INTEND scores in a group of healthy infants, establishing which items of the scale can be reliably used in individuals younger than 3 months. Methods: This is a prospective observational study. The whole cohort was divided into 5 age groups. Each of the 16 CHOP-INTEND items was analyzed looking at the frequency distribution of the scores in each age subgroup. An item was considered developmentally appropriate when > 85% of the infants achieved a full score. Results: our study includes 61 assessments collected < 2 weeks, 25 at 2-4 weeks, 20 at 5-8 weeks, 25 at 9-12 weeks and 20 at 13-17 weeks. Eight of the 16 items were developmentally appropriate already in the first week and another by the end of the first month. The remaining 7 items had more variable responses in the first three months and full scores were consistently achieved only after the third month. Conclusions: Our findings suggest that the CHOP-INTEND can be used before the age of 3 months, but the results should be interpreted with caution, considering which items are developmentally appropriate at the time of testing. This will also help to establish whether the changes observed following early treatments are a sign of efficacy or at least partly reflect maturational aspects.

The increasing pressure to include non ambulant Duchenne muscular dystrophy (DMD) boys in clinical trials has highlighted the need for outcome measures that could address the impact of upper limb function on activities of daily living. The aim of the present study was to establish the correlation between the recently developed Patient Reported Outcome Measure for the upper limb (PROM UL) and the observer rated functional scale Performance of Upper Limb (PUL 2.0) in a large cohort of DMD boys and young adults. As part of a larger natural history study, non ambulant DMD patients were assessed using PUL2.0 and PROM UL. One hundred and twenty-five concurrent PUL 2.0 and PROM UL evaluations from 60 non ambulant DMD boys were taken into consideration. The total PROM UL scores showed a strong correlation with both PUL 2.0 total scores and with PUL 2.0 entry item score. The strong correlation between the two tools confirms the clinical meaningfulness of the PUL2.0 and that the PROM UL can help to detect the gradient of progression of upper limb involvement.

Background: Type II spinal muscular atrophy (SMA) often leads to scoliosis in up to 90% of cases. While pharmacological treatments have shown improvements in motor function, their impact on scoliosis progression remains unclear. This study aims to evaluate potential differences in scoliosis progression between treated and untreated SMA II patients. Methods: Treatment effect on Cobb's angle annual changes and on reaching a 50° Cobb angle was analysed in treated and untreated type II SMA patients with a minimum 1.5-year follow-up. A sliding cut-off approach identified the optimal treatment subpopulation based on age, Cobb angle and Hammersmith Functional Motor Scale Expanded at the initial visit. Mann-Whitney U-test assessed statistical significance. Results: There were no significant differences in baseline characteristics between the untreated (n=46) and treated (n=39) populations. The mean Cobb angle variation did not significantly differ between the two groups (p=0.4). Optimal cut-off values for a better outcome were found to be having a Cobb angle <26° or an age <4.5 years. When using optimal cut-off, the treated group showed a lower mean Cobb variation compared with the untreated group (5.61 (SD 4.72) degrees/year vs 10.05 (SD 6.38) degrees/year; p=0.01). Cox-regression analysis indicated a protective treatment effect in reaching a 50° Cobb angle, significant in patients <4.5 years old (p=0.016). Conclusion: This study highlights that pharmacological treatment, if initiated early, may slow down the progression of scoliosis in type II SMA patients. Larger studies are warranted to further investigate the effectiveness of individual pharmacological treatment on scoliosis progression in this patient population.

There has recently been some concern on possible cognitive impairment in patients with Spinal Muscular Atrophy (SMA). The aim of this study was to assess cognitive profiles in type II and III SMA with a focus on individual indexes and possible correlations with motor function. 57 type II and III individuals, aged 3.5–17 years, were consecutively enrolled in a prospective, multicentric study. Cognitive function was assessed using age-appropriate Weschler Scales. Motor function was concomitantly assessed using disease-specific functional scales. Only 2 individuals (3%) had a intellectual disability of mild degree while the others were within normal range, with no significant difference in relation to SMA type, gender or functional status. While the overall quotients were mostly within normal range, some indexes showed wider variability. A significant positive medium correlation was found between Processing Speed Index and motor functional scores. Working memory had lower scores in type III patients compared to type II. Intellectual disability is uncommon in type II and III SMA. Motor functional abilities may play a role in some of the items contributing to the overall cognitive profile.

Objective: The aim of this study was to provide an overview of the clinical phenotypes associated with 4 SMN2 copies. Methods: Clinical phenotypes were analyzed in all the patients with 4 SMN2 copies as part of a nationwide effort including all the Italian pediatric and adult reference centers for spinal muscular atrophy (SMA). Results: The cohort includes 169 patients (102 men and 67 women) with confirmed 4 SMN2 copies (mean age at last follow-up = 36.9 ± 19 years). Six of the 169 patients were presymptomatic, 8 were classified as type II, 145 as type III (38 type IIIA and 107 type IIIB), and 8 as type IV. The remaining 2 patients were asymptomatic adults identified because of a familial case. The cross-sectional functional data showed a reduction of scores with increasing age. Over 35% of the type III and 25% of the type IV lost ambulation (mean age = 26.8 years ± 16.3 SD). The risk of loss of ambulation was significantly associated with SMA type (p < 0.0001), with patients with IIIB and IV less likely to lose ambulation compared to type IIIA. There was an overall gender effect with a smaller number of women and a lower risk for women to lose ambulation. This was significant in the adult (p = 0.009) but not in the pediatric cohort (p = 0.43). Interpretation: Our results expand the existing literature on natural history of 4 SMN2 copies confirming the variability of phenotypes in untreated patients, ranging from type II to type IV and an overall reduction of functional scores with increasing age. ANN NEUROL 2023;94:1126–1135.

Background and Objectives: Sleep disorders are common in children with Autism Spectrum Disorder (ASD). The aims of this study were to describe the incidence and characteristics of sleep disorders using a questionnaire completed by the caregiver in a sample of preschool-aged children with ASD and to identify possible differences in a control group of peers. Materials and Methods: Sleep disorders were investigated with the Sleep Disturbance Scale for Children (SDSC) in a population of pre-school-aged (3–5 years) ASD children and in a control group. The Autism Diagnostic Observation Schedule—second ed. (ADOS-2) was further used to assess autism symptom severity. A total of 84 children (69 males; mean age 3.9 ± 0.8 years) with a diagnosis of ASD and 84 healthy controls (65 males; mean age of 3.7 ± 0.8 years) that were matched for age and sex were enrolled. Results: ASD children reported significantly higher (pathological) scores than the control group on the SDSC total scores and in some of the factor scores, such as Difficulty in Initiating and Maintaining Sleep (DIMS), disorders of excessive somnolence (DOES), and sleep hyperhidrosis. A total of 18% of ASD children had a pathological SDSC total T-score, and 46% had an abnormal score on at least one sleep factor; DIMS, parasomnias, and DOES showed the highest rates among the sleep factors. Younger children (3 years) reported higher scores in DIMS and sleep hyperhidrosis than older ones (4 and 5 years). No specific correlation was found between ADOS-2 and SDSC scores. Conclusions: Pre-school children with ASD showed a high incidence of sleep disorders with different distributions of specific sleep factors according to their age. We suggest a screening assessment of sleep disorders using the SDSC in these children with a more in-depth evaluation for those reporting pathological scores on the questionnaire.

BACKGROUND: The nutritional status of foster children, the quality of daily menus in group homes and the Food Security inside these organizations have been poorly studied and this study means to investigate them. METHODS: A sample of 125 children, ranging in age from 0-17 years, among seven group homes (group A) was compared with 121 children of the general population we (group B). To evaluate nutritional status, BMI percentiles were used. Mean percentiles of both groups were compared through statistical analysis. Both nutritional and caloric daily distributions in each organization were obtained using the 24-hour recall method. A specific questionnaire was administered to evaluate Food Security. RESULTS: From the analysis of mean BMI-for-age (or height-for-length) percentiles, did not observe statistically significant differences between group A and group B. The average daily nutrient and calorie distribution in group homes proves to be nearly optimal with the exception of a slight excess in proteins and a slight deficiency in PUFAs. Moreover, a low intake of iron and calcium was revealed. All organizations obtained a "High Food Security" profile. CONCLUSIONS: Nutritional conditions of foster children are no worse than that of children of the general population. Foster care provides the necessary conditions to support their growth.

Internationally adopted infants experienced profound institutional deprivation in early infancy. Adoption may have a positive effect on child development, providing a massive catch-up growth in the developmental parameters. In this preliminary study we examined the effect of family deprivation on abandoned children placed in high quality foster care during infancy. We also investigated the presence of a growth delay in Italian domestic adoptees at the time of family placement and the potential physical recovery after adoption. Anthropometric measures (weight, length or height /head circumference) and Body Mass Index (BMI) were measured on arrival (T0) and 6 (T1), 12 (T2) and 24 months (T3) after adoption. The results show moderate delays in physical growth on the children’s arrival into the adoptive family and a significant catch-up growth in all auxological parameters from T0 to T3. This is one of few Italian studies that points out a positive change in trajectories of growth after child adoption.

To determine the effect of early Skin-to-Skin Contact (STSC) in a low-resource setting and to promote a correct educational training on STSC methodology among the hospital members. The research was performed at the Maternity ward of Ambrosoli Memorial Hospital of Kalongo, Infants were randomized immediately after birth either to receive early STSC or conventional care. During the 90 minutes’ observation we evaluated neonatal infant pain scale score during the vitamin K injection; infant breastfeeding assessment tool at the first breastfeeding; axillary temperature at 15, 30, 45, 60, 75, 90 minutes; heart rate and respiratory rate; newborn and mother’s blood glucose; time of placental delivery. Moreover the hospital staff were invited to complete an anonymous self-reported questionnaire to explore midwives and mothers’ perceptions of the benefits of this procedure and to understand the acceptance and barriers to STSC in an African community setting. The main results indicate that STSC has a positive effect on infant blood glucose and temperature stability, first breastfeeding, newborns’ pain, placental delivery and can reduce the stress associated with birth. The pilot study found that our adaptation of STSC for community-based implementation was quickly adopted and that it might be used immediately after birth as a beneficial clinical intervention to improve newborns health and survival.

BACKGROUND: To investigate the changes of developmental and behavioral profile in a domestic adoptees sample. METHODS: 36 domestic adoptive families were recruited, resulting in a sample of 39 children. Families were sent a general questionnaire for collecting data related to the children demographic variables, infant's background (time spent in institutional care, age at adoption), children's health status and anthropometric measures at T0 , T1, T2 and T3 . Moreover, the Infant Behavior Questionnaire-Revised Very Short Form and a modified version of parent-report of Child Behavior Checklist were used to assess temperament and to detect behavioral problems. RESULTS: As regards the psychopathological evaluation, behavior problems were more common in older children, especially among girls. In particular they exhibited a higher frequency of internalizing problems versus externalizing. CONCLUSIONS: Children in foster care suffer discontinuity of care that negatively affects their emotional and physical development. It's important for pediatricians to be aware of the special needs of adopted children, providing adequate support to adoptive families.

Context: Pediatric abusive head trauma (AHT) can be defined as an injury to the skull or intracranial contents of a child under the age of 5 due to inflicted blunt impact or violent shaking. Evidence Acquisition: AHTis the mostcommoncause of traumatic death in children younger than 1 year, and it is the leading cause of death due to child abuse. Clinical presentation observed in children with AHT depends on the type of AHT and accompanying injuries. History and physical examination are important for diagnosing AHT and for distinguishing it from other conditions that can mimic shaken baby syndrome, such as accidental trauma, cancer, metabolic diseases, and others. Results: Progress in research on the medical diagnosis of AHT has been remarkable, while the development of treatment strategies has been limited. For these reasons, there is an urgent need to develop effective treatment strategies for AHT able to improve the outcomes. Conclusions: The construction of a nationwide database that supports clinical studies is required in the future.

OBJECTIVE: To investigate the role of punishment in enuretic children and how the punishments can influence therapy response. METHODS: We enrolled 218 enuretic children. The children and their families were asked to participate in the study at the end of the clinical evaluation. RESULTS: The analysis of the questionnaires shows that at least one punishment because of nocturnal enuresis (NE) had been applied to 27 out of 218 (12.4%) children. Punishment methods were reprimanding in 19 out of 27 (70.4%), depriving of sleep in 11 out of 27 (40.7%), mildly beating in 3 out of 27 (11.1%), leaving the child wet in 1 out of 27 (3.7%) and other methods in 2 out of 27 (7.4%). In the group of punished children, a full or partial response in terms of a decreased number of wet nights was achieved in 40.7 vs. 59.2% in children who had not been punished. CONCLUSIONS: Parents should be sensitized on the adverse effects of punishment on child development. It is important in childcare to explain the definitions of the disorder and find the best treatment (behavioural and/or medicinal) depending on the single patient, his/her family and compliance of both. Successful management of NE has benefits to both the child and the family.

Factitious disorders are the intentional production of feigning symptoms or disabilities; either physical or psychological. We report the case of a young girl, victim of Münchausen by proxy who became a Münchausen patient.