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Aim: To develop a short version of the original Hammersmith Infant Neurological Examination (HINE) to be used as a screening tool (Brief-HINE) and to establish if the short examination maintains good accuracy and predictive power for detecting infants with cerebral palsy (CP)., Method: Eleven items were selected from the original HINE ('visual response'; 'trunk posture'; 'movement quantity'; 'movement quality'; 'scarf sign'; 'hip adductor angles'; 'popliteal angle'; 'pull to sit'; 'lateral tilting'; 'forward parachute reaction'; 'tendon reflexes') identifying those items previously found to be more predictive of CP in both low- and high-risk infants. In order to establish the sensitivity of the new module, the selected items were applied to existing data, previously obtained using the full HINE at 3, 6, 9, and 12 months, in 228 infants with typical development at 2 years and in 82 infants who developed CP., Results: Brief-HINE scores showed good sensitivity and specificity, at each age of assessment, for detecting infants with CP. At 3 months, a score of less than 22 was associated with CP with a sensitivity of 0.88 and a specificity of 0.92; at 6, 9, and 12 months, the cut-off scores were less than 25 (sensitivity 0.93; specificity 0.87), less than 27 (sensitivity 0.95; specificity 0.81), and less than 27 (sensitivity 1; specificity 0.86) respectively. The presence of more than one warning sign, or items that are not optimal for the age of assessment, imply the need for a full examination reassessment., Interpretation: These findings support the validity of the Brief-HINE as a routine screening method and the possibility of its use in clinical practice., (© 2024 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.)

Achondroplasia (ACH), the most common form of skeletal dysplasia, is characterized by severe disproportionate short stature, rhizomelia, exaggerated lumbar lordosis, brachydactyly, macrocephaly with frontal bossing and midface hypoplasia. Ligamentous laxity has been reported as a striking feature of ACH, but its prevalence and characteristics have not been systematically evaluated yet. There is growing evidence that ligamentous laxity can be associated with chronic musculoskeletal problems and may affect motor development leading to abnormal developmental trajectories. This study aimed to assess the prevalence of ligamentous laxity in children with ACH through standardized tools, the Beighton scale and its modified version for preschool-age children. A total of 33 children (mean age 6.4 ± 3.2 years; age range 1-12.5 years) diagnosed with ACH by the demonstration of a pathogenic variant in the FGFR3 gene and 33 age- and sex-matched healthy controls were included in the study. Both ligamentous laxity assessment and neurological examinations were performed; medical history was also collected from caregivers. Children with ACH showed a 2 times higher risk of ligamentous laxity than the group without skeletal dysplasia (OR = 2.2; 95% CI = 1.0 to 4.7), with 55% of children meeting the diagnostic criteria for hypermobility. No significant difference in ligamentous laxity was observed between males and females. Joint involvement analysis revealed characteristic patterns, with knee hypermobility observed in 67% of patients, while rare was elbow hypermobility. Longitudinal assessments indicated a decreasing trend in ligamentous laxity scores over time, suggesting a potential decrease in hypermobility issues during adulthood. The findings of this study provide valuable insights into the prevalence and characteristics of ligamentous laxity in ACH. Implementation of standardized ligamentous laxity assessments might guide patients' follow-up and facilitate early interventions, helping to prevent pain and improve outcomes and quality of life for such patients. Further prospective studies are needed to explore the natural history of ligamentous laxity in ACH and investigate the potential impact of emerging pharmacological treatments upon hypermobility., Competing Interests: Declaration of competing interest Roberta Onesimo has received funding as principal investigator for a Sanofi clinical trial and from Biomarin as speaker in sponsored symposia. Giuseppe Zampino has received funding as principal investigator for Pfizer clinical trials., (Copyright © 2024 The Authors. Published by Elsevier Masson SAS.. All rights reserved.)

Physical exercise is known to have beneficial effects on psychosocial well-being and cognitive performance. Children with cerebral palsy (CP) showed lower levels of physical activity (PA) than healthy children; this fact, in addition to the basic clinical condition, increased the sedentary habit with a psychological impact and motor impairment of these children. Furthermore, children and adolescents with CP are less committed to sports activities than typically developing children of the same age. The aim of the present narrative review was to increase the amount of knowledge regarding the effectiveness and importance of specific and individualized sports in children with CP. A comprehensive search of MED-LINE and EMBASE databases was performed, including specific search terms such as "cerebral palsy" combined with "sport", "physical activity", and the names of different sports. No publication date limits were set. We included studies with an age range of 0-18 years. The main results pointed out that most of the sports improved motor function, quality of life, and coordination in children and adolescents with CP. Physicians, therapists, and parents should become aware of the benefits of sports activities for this population of patients. Specific sports activities could be included as a usual indication in clinical practice in addition to rehabilitation treatment.

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.

Assessing and improving walking abilities is considered one of the most important functional goals of physical therapy in children with cerebral palsy. However, there is still a gap in knowledge regarding the efficacy of treatment targeting the walking capacity of children with CP, as well as their responsiveness to the treatment. The 6 min walk test (6MWT) is a reliable tool to measure this function in children with CP, although less has been known about its potential efficacy to assess changes in the walking abilities associated with interventions. The aim of the present narrative review is to increase the amount of knowledge regarding the use of the 6MWT as a reliable measure to evaluate the effect of interventions on walking capacity in children with CP.

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. For each item, column 1 reports abnormal findings, column 3 normal findings, and column 2 intermediate signs to be followed. Consistent with previous studies, in low-risk infants, none had definitely abnormal or mildly abnormal signs, with the exception of tendon reflexes that were not easily elicitable in 17.14% of term-born infants., Conclusion: Our study suggest that the module can be easily used in a clinical setting as an add-on to the regular neonatal neurological examination in newborns identified as hypotonic on routine examination. Larger cohorts are needed to establish the accuracy of the prognostic value of the module in the differential diagnosis of floppy infant., What Is Known: • Hypotonia is one of the key signs in newborns with neuromuscular disorders and can be associated with a wide range of other conditions (central nervous system involvement, genetic and metabolic diseases). • Weakness or/and contractures can identify infants with a neuromuscular disorder and help in the differential diagnosis of floppy infants., What Is New: • To date, this is the first attempt to develop and apply a specific neurological module for the assessment of the floppy infant. • The module can be used in a routine clinical setting as an add-on to the regular neurological examination and has potential to differentiate the floppy infants from the low-risk infants., (© 2022. The Author(s).)

Aim: To describe the profile of global and single items of the Hammersmith Infant Neurological Examination (HINE) in a population of low-risk infants born very preterm during the first year of life., Method: The HINE was performed at 3, 6, 9, and 12 months' corrected age in a population of low-risk infants born preterm with a gestational age of fewer than 32 weeks and with normal or minimal changes on neuroimaging., Results: A total of 174 infants born preterm (96 males, 78 females; mean gestational age = 27 weeks [SD = 1.8], range 23-31 weeks) fulfilled the inclusion criteria. The 10th centile cut-off score with median and range was reported for the HINE global and subsection scores. A progressive increase in global HINE scores was observed. Most of the single items, especially those related to tone, posture, and reflexes, showed progressive maturation., Interpretation: Our results, which provide longitudinal data for single-item and global scores in a population of low-risk infants born very preterm, can be used as a reference in both clinical and research settings to monitor early neurological signs in these infants. These data could be used as normative data when examining low-risk infants born preterm., (© 2022 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.)

The emergency created by Coronavirus disease 2019 (COVID-19) has inevitably changed human normal social and relational habits. The use of personal protective equipment, like surgical masks, by healthcare workers has been recommended to prevent human-to-human transmission of the novel coronavirus infection. However, the use of these masks could cause slight to considerable and reproducible changes in the infant's attitude towards the operator and health taker during routine clinical assessments. We reported a brief report on the impact of to the use of the surgical masks on the affective behaviour in 40 infants of age 2-9 months (study group) by using a scale to assess pain and distress among pediatric patients, the Face, Legs, Activity Cry and Consolability Scale (FLACC), and in 40 infants with the same ages and characteristics assessed before the COVID-19 pandemia onset (control group). Thirty-seven of the 40 infants in the study group had some signs of discomfort and appeared irritable and less prone to be engaged by the examiner with a different pattern of responses related to age with better responses for younger infants. These infants reported higher significant scores (p < 0.001) in the FLACC scale than those assessed before the COVID-19 onset. Infants appear to react negatively to the use of the surgical mask by the health operator. A different way to assess paediatric patients in early infancy with longitudinal studies should be proposed., Competing Interests: The authors declare no conflict of interest., (© 2021 The Authors.)

Early neurological assessment in infants with hypoxic ischemic encephalopathy (HIE) treated with hypothermia has not been systematically explored. The aims of the present study were to assess whether the Hammersmith Infant Neurological Examination (HINE) is a good tool to predict later neurodevelopmental outcomes at 2 year from birth in this population of infants. A total of 41 term born infants with HIE treated with hypothermia performed the HINE at 12 months and a neurodevelopmental assessment at 24 months. All the infants who had a global HINE score between 67 and 78 were able to walk independently at 2 years and reported a normal developmental quotient; language disorders were observed in a limited number of infants. HINE scores <67 were always associated with motor impairment. In conclusion, the HINE confirms its role as one of the early neurological examination tools for the diagnosis of high risk infants, even in infants with HIE treated with hypothermia. These results can be useful for clinicians involved in the follow up of these infants for early identification of motor disabilities and in planning appropriate intervention.

Objective: To evaluate the prevalence of joint laxity in children born preterm assessed in the first 2 years, the relationship between joint laxity and motor performance at preschool age, and possible changes over time in a subgroup of children followed longitudinally., Study Design: The revised scale of Beighton Score was used to evaluate joint laxity in a population of 132 preschool children born preterm between 24 and 32 weeks of gestational age. All were assessed for joint laxity between 12 and 24 months of age. Children also performed the Movement Assessment Battery for Children-Second Edition between the age of 3 years and 6 months and 4 years; the age at onset of independent walking also was recorded., Results: The total Beighton Score ranged between 0 and 8. Twenty percent of the cohort showed joint laxity. No differences related to sex or gestational age were observed. Children born preterm with joint laxity achieved later independent walking and achieved lower scores on Movement Assessment Battery for Children-Second Edition than those without joint laxity. In 76 children born preterm, an assessment for joint laxity was repeated once between 25 and 36 months and again after >36 months. No statistically significant difference was observed between the 3 assessments., Conclusions: The Beighton Score can be used to assess generalized joint laxity in children born preterm. As the presence of joint laxity influenced motor competences, the possibility to early identify these infants in the first 2 years is of interest to benefit from early intervention and potentially improve gross motor skills and coordination., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Background: Movement Disorder-Childhood Rating Scales (MD-CRS) have been designed in two forms (0-3 and 4-18 years) to accurately evaluate various movement disorders in children., Aim: The aim of this study is to evaluate the MD-CRS reliability when used by clinicians and professionals of rehabilitation after a one-day training on scoring it., Design: This is a measurement-focused study of video-recorded sessions., Setting: Video session carried out inpatient and outpatient., Population: Children with different types of movement disorders., Methods: After brief training in scoring MD-CRS, five health professionals (a resident doctor, a child neurologist and three physical therapists) independently scored 40 patient videotapes, of children with movement disorders for inter-rater reliability. In addition, the resident doctor scored 80 videos of 40 patients evaluated twice for intra-rater reliability. Reliability was assessed by Intraclass Correlation Coefficient (ICC) and was calculated separately for the two forms of the scale and for each score (Index I, Index II and Global Index). Standard Error of Measurement (SEM) and Minimal Detectable Difference (MDD) were also calculated., Results: For both forms, inter-rater reliability of Global Index and Index I were good with an ICC ranged between 0.83 and 0.95. Instead, results of Index II were substantially moderate for both forms, with an ICC of 0.53 and 0.57, respectively. Intra-rater reliability for all Indexes in both forms was substantial or almost perfect, with values of ICCs ranging from 0.74 to 0.99. MDD values were between 0.05 and 0.17., Conclusions: MD-CRS 0-3 and MD-CRS 4-18 remain reliable clinical measurement tools for evaluation of movement disorders in developmental age when used by clinicians and professionals of rehabilitation after a specific short training., Clinical Rehabilitation Impact: MD-CRS 0-3 and MD-CRS 4-18 appear to be a promising outcome measurement tool in large scale studies with children and adolescents affected by various movement disorders either to verify natural history of the disorder or to plan pharmacological and/or surgical intervention programs.

Objective: To provide a revision of the Beighton score adapted for children younger than the age of 5 years, to apply the revised version in a cohort of preschool age children, and to verify the reliability of the revised version in a cohort of preschool children with genetic syndromes associated with hypermobility., Study Design: The revised Beighton score was applied in a population of preschool children to evaluate joint hypermobility in 5 parts of the body, bilaterally (passive dorsiflexion of the fifth finger; passive hyperextension of the elbow; passive hyperextension of the knee; passive apposition of the thumb to the flexor side of the forearm; passive dorsiflexion of the ankle joint). The frequency distribution of the total scores was calculated with a range between 0 and 10., Results: A total of 284 healthy preschool children (146 boys and 138 girls) and 26 preschool children with genetic disorders (15 boys and 11 girls) were assessed. Mean age was 33.6 ± 12.7 months. A score ≤4 was found in more than 90% of the whole cohort; therefore, a cut-off score >4 was used to identify hypermobility. Twenty-two of the 284 (7%) healthy children and 23 of the 26 children (89%) with genetic syndromes associated with hypermobility had a score >4. The joints reporting a greater incidence of hypermobility were "apposition of the thumb to the forearm" and "passive dorsiflexion of the ankle," in 34% and 22% respectively. No differences related to sex or age were observed., Conclusions: The revised version of the Beighton score can be used to define generalized hypermobility for children up to 5 years of age and to assess and follow-up longitudinally patients with isolated hypermobility or those in whom the laxity is associated with other clinical features., (Copyright © 2016 Elsevier Inc. All rights reserved.)