Development of the "SMA NNE," a short neonatal neurological examination for newborns with spinal muscular atrophy.

Unlabelled: The advent of newborn screening for spinal muscular atrophy (SMA) has highlighted the need for easy, quick, clinical tools to be used in infants with SMA identified in the neonatal period. We propose a new short module developed using items from the Hammersmith Neonatal Neurological Examination (HNNE) and from a module developed for floppy infants, both previously used in newborns with SMA. The new module was developed by identifying and selecting the items that were more often found to have abnormal findings in SMA newborns.

Neurodevelopmental and mental disorders in children with type I and presymptomatic spinal muscular atrophy.

The advent of disease modifying therapies in spinal muscular atrophy (SMA) has increased life expectancy but also raising new challenges. We aimed to explore the neurobehavioral profile in SMA type I subjects and in those identified by newborn screening (NBS). Behavioral assessment included screening questionnaires (strengths and difficulties questionnaire (SDQ), social communication questionnaire (SCQ), and sensory profile 2 (SP2)), neurobehavioral observation, CARS2 and DSM-5 criteria.

Cognitive Orientation to daily Occupational Performance Approach with children with Dravet syndrome using a telerehabilitation format: A single subject study.

Introduction: Dravet syndrome (DS) is a severe form of epilepsy that affects a child's cognitive, language, behavioral, and physical abilities, leading to reduced adaptive functioning. Despite its impact, there is limited evidence supporting effective interventions for these children, particularly in addressing their occupational performance.

Objective: To explore the effectiveness of the Cognitive Orientation to Daily Occupational Performance (CO-OP) approach in a telerehabilitation format for children with DS.

Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?

Neonatal screening for SMA has allowed the identification of infants who may present with early clinical signs. Our aim was to establish whether the presence and the severity of early clinical signs have an effect on the development of motor milestones. Infants identified through newborn screening were prospectively assessed using a structured neonatal neurological examination and an additional module developed for the assessment of floppy infants.

Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data.

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.

Early treatment of type II SMA slows rate of progression of scoliosis.

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.

Profile of cognitive abilities in spinal muscular atrophy type II and III: what is the role of motor impairment?

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.

Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?

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.

Patient reported outcome measure for upper limb in Duchenne muscular dystrophy: correlation with PUL2.0.

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.

A Longitudinal Follow-Up Study of Intellectual Function in Duchenne Muscular Dystrophy over Age: Is It Really Stable?

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.

Long term follow-up of scoliosis progression in type II SMA patients.

The aim of this study is to retrospectively assess onset and progression of scoliosis in type II SMA patients not treated with the approved disease modifying treatments. Scoliosis was evaluated by measuring the scoliosis angle on X-ray obtained in the anteroposterior view in sitting position (Cobb's angle method). Eighty-four patients had at least one assessment of scoliosis angle (287 assessments).

Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening.

Unlabelled: The possibility to identify patients with spinal muscular atrophy through neonatal screenings has highlighted the need for clinical assessments that may systematically evaluate the possible presence of early neurological signs. The aim of this study was to use the Hammersmith Neonatal Neurological Examination (HNNE) and a module specifically designed for floppy infants to assess the possible variability of neurological findings in infants identified through neonatal screening. The infants included in this study were identified as part of a pilot study exploring neonatal screening in two Italian regions.

Assessing floppy infants: a new module.

Unlabelled: Our aim was to develop a new module for assessing the floppy infant, to describe the application of the module in a cohort of low-risk newborns and piloting the module in a cohort of floppy infants. The module was applied to a cohort of 143 low-risk newborns and piloted in in a cohort of 24 floppy infants. The new add-on module includes a neurological section and provides a section for recording information obtained by physical examination and antenatal history.

Nusinersen efficacy data for 24-month in type 2 and 3 spinal muscular atrophy.

The study reports real world data in type 2 and 3 SMA patients treated for at least 2 years with nusinersen. Increase in motor function was observed after 12 months and during the second year. The magnitude of change was variable across age and functional subgroup, with the largest changes observed in young patients with higher function at baseline.

Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis.

Background: There is an increasing number of papers reporting the real world use of Nusinersen in different cohorts of SMA patients.

Main Body: The aim of this paper was to critically review the literature reporting real world data on motor function in type 2 and 3 patients treated with Nusinersen, subdividing the results according to SMA type, age and type of assessment and performing a meta-analysis of the available results. We also report the available data collected in untreated patients using the same measures.

Sleep Disorders in Autism Spectrum Disorder Pre-School Children: An Evaluation Using the Sleep Disturbance Scale for Children.

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. 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.

Developmental and behavioral profile in a domestic adoptees sample: a new challenge for the pediatrician.

Background: The aim of this study is to investigate the changes of developmental and behavioral profile in a domestic adoptees sample.

Methods: Thirty-six 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.

Changes in trajectories of physical growth in a domestic adoptees sample: A preliminary study.

Ferrara P, Cutrona C, Guadagno C, Amodeo ME, Del-Vescovo E, Ianniello F, Petitti T. Changes in trajectories of physical growth in a domestic adoptees sample: A preliminary study. Turk J Pediatr 2018; 60: 464-466.

Food security and the nutritional status of children in foster care: new horizons in the protection of a fragile population.

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.

Melatonin's Effect on the Efficacy of Desmopressin in the Treatment of Enuresis.

Purpose: This study aims to evaluate and compare the efficacy of exogenous melatonin associated with desmopressin (dDAVP) and dietary recommendations.

Methods: A total of 189 patients were enrolled from the Service of Pediatrics, Campus Bio-Medico University Hospital of Rome, from January 2013 to June 2015. Of the 189 original patients, 153 children, aged between 5 and 14 years (mean age, 8.

Enuresis and Punishment: The Adverse Effects on Child Development and on Treatment.

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.