Prevention of hip dislocation in severe cerebral palsy (GMFCS III-IV-V): an interdisciplinary and multi-professional Care Pathway for clinical best practice implementation.

BACKGROUND: Hip displacement (HD) and dislocation in severe Cerebral Palsy (CP) (GMFCS III, IV, V) are important causes of worsening disability and quality of life. Prevention must be started from the first months of life through screening programs and early treatments, both conservative and surgical. Evidence from Clinical Practice Guidelines also suggests the development of Care Pathways for good clinical practice. At the beginning of 2020 an interdisciplinary, multi-professional working group, composed of 26 members (including Physiatrists, Physiotherapist, Neuro-psychomotor Therapists and Orthopedists representing the respective Italian Scientific Societies) with the involvement of the FightTheStroke Foundation families' association, was set up. AIM: The aim of the multi-professional panel was the production of evidence-based recommendations for the Care Pathway "Prevention of Hip Displacement in children and adolescents with severe CP" for best clinical practice implementation in our national context. DESIGN: Clinical Care Pathway (Clinical Practice Guideline). SETTING: Inpatient and outpatient. POPULATION: Children with severe CP (GMFCS III-IV-V). METHODS: The recommendations of this Care Pathway were developed using the American Academy for Cerebral Palsy and Developmental Medicine (AACPDM) guidelines for Care Pathways development and the Grading of Recommendations Assessment Development and Evaluation (GRADE ADOLOPMENT) working group for adoption or adaption or de novo development of recommendations from high-quality guidelines. In 2020 a multidisciplinary working group (WG) developed four research questions on the prevention of HD on the following topics: screening, botulinum toxin treatment, postural management and preventive soft tissue surgery. A comprehensive review of the biomedical literature was performed on each question. Guidelines, Systematic Reviews and Primary studies were retrieved through a top-down approach. References were screened according to inclusion criteria and quality was assessed by means of specific tools. A list of recommendations was then produced divided by intervention (screening programs, postural management, botulinum toxin, preventive surgery). In a series of meetings, the panel graduated recommendations using the GRADE evidence to decision frameworks. RESULTS: Fifteen recommendations were developed: seven on screening programs, four on postural management strategies, one on botulinum toxin, and three on preventive surgery. Evidence quality was variable (from very low to moderate) and only a few strong recommendations were made. CONCLUSIONS: In severe CP at high risk of hip dislocation, it is strongly recommended to start early hip surveillance programs. In our national context, there is a need to implement Screening programs and dedicated Network teams. We also strongly recommend a comprehensive approach shared with the families and goal-oriented by integrating the different therapeutic interventions, both conservative and not, within Screening programs. CLINICAL REHABILITATION IMPACT: Implementing a comprehensive multi-professional approach for the prevention of hip dislocation in severe CP.

ELP2 compound heterozygous variants associated with cortico-cerebellar atrophy, nodular heterotopia and epilepsy: Phenotype expansion and review of the literature.

The elongator complex is a highly conserved macromolecular assembly composed by 6 individual proteins (Elp 1-6) and it is essential for many cellular functions such as transcription elongation, histone acetylation and tRNA modification. ELP2 is the second major subunit and with Elp1 and Elp3 it shapes the catalytic core of this essential complex. ELP2 gene pathogenic variants have been reported to be associated with several neurodevelopmental disorders, such as intellectual disability, severe motor development delay with truncal hypotonia, spastic diplegia, choreoathetosis, short stature and neuropsychiatric problems. Here we report a case with heterozygous variants of the ELP2 gene associated with unpublished electro-clinical and neuroimaging features, such as abnormal eye movements, focal epilepsy, cortico-cerebellar atrophy and nodular cortical heterotopia on brain MRI. A possible phenotype-genotype correlation and the electro-clinical and neuroimaging phenotype expansion of ELP2 mutations are here discussed, together with considerations on involved cortico-cerebellar networks and a detailed review of the literature.

Usefulness of a Qualitative Ultrasound Evaluation of the Gastrocnemius-Soleus Complex with the Heckmatt Scale for Clinical Practice in Cerebral Palsy.

Ultrasound is increasingly used for the evaluation of spastic muscles in cerebral palsy. Increased echo intensity is considered indicative of a muscle fibrous involution. The aim of this study was to highlight any correlation between increased echo intensity of the gastrocnemius-soleus complex and clinical tests for stiffness evaluation, age and functional level measured with the Gross Motor Function Classification System. We used the qualitative echo intensity grading system of the Heckmatt scale (HS) and tested its inter-rater reliability. The study group comprised 60 patients with cerebral palsy. We found a weak significant correlation between HS scores and clinical stiffness measures and between HS and age for all muscles studied, and between the HS and Gross Motor Function Classification System only for the soleus muscle. The study indicated moderate inter-rater reliability, with κ values between 0.60 and 0.73, for almost all muscles studied. Ultrasound provides a useful complementary survey of stiffness tests in cerebral palsy.

The effects of uninvolved side epiphysiodesis for limb length equalization in children with unilateral cerebral palsy: clinical evaluation with the Edinburgh visual gait score.

PURPOSE: Hemiplegic cerebral palsy patient may present a shorten leg on the hemiplegic side that afflicts negatively the kinematic of the uninvolved limb. Thus, the aim of this study was to investigate the modification of gait kinematic after epiphysiodesis for limb equalization and secondary to verify the prediction of correction. METHODS: Skeletally immature hemiplegic patients with a minimum limb leg discrepancy (LLD) of 2.5 cm were treated with epiphysiodesis of the unaffected knee and clinically evaluated with Edinburgh visual gait score (EVGS). Green-Anderson curve was used to predict time decision for correction. RESULTS: Ten LLD patients were evaluated with the Edinburgh visual gait score (EVGS) before and after surgery. Mean age was 12.7 years, mean follow-up was 6.7 years, and mean LLD was 3.4 cm before surgery and 1.2 cm at final follow-up. After lower limb equalization surgery, improvement in gait kinematics was observed on both the uninvolved and hemiplegic limb of hemiplegic cerebral palsy patients (p < 0.001). Final correction did not reach expected correction (2.3 vs. 2.8 cm). However, the difference was not statistically significant (p = 0.058). CONCLUSION: This is the first study to report improvement on both the uninvolved and hemiplegic limb gait kinematics after limb equalization surgery. Due to the impaired dorsiflexion of the hemiplegic foot, LLD target at the end of growth should range between 0.5 and 1.5 cm.