Publications by authors named "Piero Pavone"

185 Publications

Chromosome 15q BP4-BP5 Deletion in a Girl with Nocturnal Frontal Lobe Epilepsy, Migraine, Circumscribed Hypertrichosis, and Language Impairment.

J Epilepsy Res 2020 Dec 31;10(2):84-91. Epub 2020 Dec 31.

Unit of Neonatology University Hospital "Policlinico-Vittorio Emanuele", Catania, Italy.

The 15q13.3 microdeletion (microdel15q13.3) syndrome (OMIM 612001) has been reported in healthy subjects as well as in individuals with a wide spectrum of clinical manifestations ranging from mild to severe neurological disorders, including developmental delay/intellectual disability, autism spectrum disorder, schizophrenia, epilepsy, behavioral problems and speech dysfunction. This study explored the link between this genomic rearrangement and nocturnal frontal lobe epilepsy (NFLE), which could improve the clinical interpretation. A clinical and genomic investigation was carried out on an 8-year-girl with a deletion flanking the breakpoints (BPs) 4 and 5 of 15q13.3 detected by array comparative genomic hybridization analysis, affected by NFLE, migraine with aura, minor facial features, mild cognitive and language impairment, and circumscribed hypertrichosis. Literature survey of clinical studies was included. Nine years follow-up have displayed a benign course of the epileptic disorder with a progressive reduction and disappearance of the epileptic seizures, mild improvement of cognitive and language skills, partial cutaneous hypertrichosis regression, but stable ongoing of migraine episodes. A likely relationship between the BP4-BP5 deletion and NFLE with other symptoms presented by the girl is discussed together with a review of the literature on phenotypic features in microdel15q13.3.
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http://dx.doi.org/10.14581/jer.20014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7903043PMC
December 2020

Vitamin B12 Deficiency and West Syndrome: An Uncommon but Preventable Cause of Neurological Disorder. Report on Three Cases, One of Them with Late Onset during Vitamin B12 Treatment.

Neuropediatrics 2021 Mar 3. Epub 2021 Mar 3.

Department of Neurology, Hospital de Pediatría "Prof. Dr. Juan P Garrahan" Buenos Aires, Buenos Aires, Argentina.

Vitamin B12 is a water-soluble vitamin that plays a fundamental role as an essential cofactor for two enzymes responsible for the production of succinyl-CoA and methionine. Vitamin B12 deficiency can occur in infants and may be related to the breastfeeding mother's adherence to a vegan diet or somatic diseases in the mother. It should be differentiated from inborn errors of vitamin B12 metabolism. Herein, we report the cases of three infants with West syndrome; all three were breastfed by mothers who followed a strict vegan diet. In one of the three infants, West syndrome developed during treatment with vitamin B12 and normalization of the vitamin B12 level. Early treatment and replacement therapy are worthwhile to prevent serious neurological problems and to improve the patient's clinical course.
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http://dx.doi.org/10.1055/s-0041-1725013DOI Listing
March 2021

Ocular Motor Paroxysmal Events in Neonates and Infants: A Review of the Literature.

Pediatr Neurol 2020 Jun 8;117:4-9. Epub 2020 Jun 8.

Neonatal Intensive Care Unit, Department of Maternal and Child Health, University of Palermo, Palermo, Italy.

Background: Ocular paroxysmal events can accompany a variety of neurological disorders. Particularly in infants, ocular paroxysmal events often represent a diagnostic challenge. Distinguishing between epileptic and nonepileptic events or between physiological and pathologic paroxysmal events can be challenging at this age because the clinical evaluation and physical examination are often limited. Continuous polygraphic video-electroencephalography (EEG) monitoring can be helpful in these situations.

Methods: We review ocular paroxysmal events in newborns and infants. The aim is to improve clinical recognition of ocular paroxysmal events and provide a guide to further management. Using the PubMed database, we identified studies focused on all ocular motor paroxysmal events in neonates and infants.

Results: Fifty-eight articles were selected on the topic. We summarized and divided these studies into those describing nonepileptic and epileptic ocular paroxysmal events.

Conclusions: The diagnosis of ocular paroxysmal events can be difficult, but their recognition is important because of the variety of underlying etiologies. The distinction between epileptic versus nonepileptic ocular paroxysmal events often often requires polygraphic video-EEG to identify the epileptic events. For nonepileptic events, further testing can characterize pathologic ocular movements. To determine the etiology and prognosis of ocular paroxysmal events, a multimodal approach is required, including a thorough full history and clinical examination, polygraphic video-EEG monitoring, neuroimaging, and a careful follow-up plan.
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http://dx.doi.org/10.1016/j.pediatrneurol.2020.06.001DOI Listing
June 2020

Dynamic and Static Splinting for Treatment of Developmental Dysplasia of the Hip: A Systematic Review.

Children (Basel) 2021 Feb 4;8(2). Epub 2021 Feb 4.

Department of General Surgery and Medical Surgical Specialties, Section of Orthopaedics and Traumatology, University Hospital Policlinico-Vittorio Emanuele, University of Catania, 95123 Catania, Italy.

Background: Developmental dysplasia of the hip (DDH) is one of the most common pediatric conditions. The current gold-standard treatment for children under six months of age with a reducible hip is bracing, but the orthopedic literature features several splint options, and each one has many advantages and disadvantages. The aim of this review is to analyze the available literature to document the up-to-date evidence on DDH conservative treatment.

Methods: A systematic review of PubMed and Science Direct databases was performed by two independent authors (C.d.C. and A.V.) using the keywords "developmental dysplasia hip", "brace", "harness", "splint", "abduction brace" to evaluate studies of any level of evidence that reported clinical or preclinical results and dealt with conservative DDH treatment. The result of every stage was reviewed and approved by the senior investigators (V.P. and G.T.).

Results: A total of 1411 articles were found. After the exclusion of duplicates, 367 articles were selected. At the end of the first screening, following the previously described selection criteria, we selected 29 articles eligible for full text reading. The included articles mainly focus on the Pavlik harness, Frejka, and Tubingen among the dynamic splint applications as well as the rhino-style brace, Ilfeld and generic abduction brace among the static splint applications. The main findings of the included articles were summarized.

Conclusions: Dynamic splinting for DDH represents a valid therapeutic option in cases of instability and dislocation, especially if applied within 4-5 months of life. Dynamic splinting has a low contraindication. Static bracing is an effective option too, but only for stable hips or residual acetabular dysplasia.
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http://dx.doi.org/10.3390/children8020104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7913860PMC
February 2021

Secondary Scoliosis as a Complication of Acute Transverse Myelitis in a Child.

J Funct Morphol Kinesiol 2020 Jun 9;5(2). Epub 2020 Jun 9.

Department of Orthopaedics and Traumatologic Surgery, AOU Policlinico-Vittorio Emanuele, University of Catania, Via Santa Sofia, 78, 95123 Catania, Italy.

Acute transverse myelitis (ATM) is a rare neurological condition that affects the spinal cord. Several events, including infections, autoimmune conditions, inflammatory, and drug-induced factors, may cause this disorder. Correct and rapid etiological diagnosis is necessary in order to start appropriate treatment that mainly consists of immunomodulating therapy, high dose intravenous corticosteroids, and in plasma exchange in noninfectious cases. The outcome is varied and depends on several factors. In children, the prognosis is usually good. We report a case of an 11-year-old boy who presented with interscapular pain, right leg steppage, homolateral hyposthenia of the upper limb, and signs of autonomic dysfunction. After performing specific and instrumental exams, a diagnosis of transverse myelitis was reached, and appropriate therapy was performed. A few days post-treatment, the child developed a secondary scoliosis, involving a thoracolumbar curve with loss of cervical and lumbar lordosis. After rehabilitative treatment was undertaken for 12 months, a complete recovery and normal restoration of spinal physiological curves was obtained. The pediatric cases of ATM have a good response to steroid therapy combined with physiotherapy. Collaboration among the various specialists is worthwhile, in order to lead to a correct and rapid diagnosis.
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http://dx.doi.org/10.3390/jfmk5020039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7739325PMC
June 2020

Cerebral Palsy and Epilepsy in Children: Clinical Perspectives on a Common Comorbidity.

Children (Basel) 2020 Dec 31;8(1). Epub 2020 Dec 31.

Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, 95123 Catania, Italy.

Cerebral palsy (CP) is a frequent cause of childhood disability often associated with a complex group of disorders, including epilepsy, which is reported to impact approximately 40% of affected individuals. This retrospective study involved a group of children affected by CP, some of whom also had comorbid epilepsy. The aim of this study was to report our experience of analyzing, in particular, (a) some of the clinical aspects of the different type of CP, and (b) the relationship between the clinical data of children affected by CP plus epilepsy and each type of CP.

Methods: This retrospective single-center study was performed with 93 children admitted to the Pediatric Department of the University of Catania, Italy, affected by CP and distinguished according to the type of motor clinical presentation, with 46 showing epileptic seizures, compared to a control group of 136 children affected by epilepsy without other neurologic disorders.

Results: Among the 93 CP children, 25 (27%) had spastic quadriplegia (plus one patient with dystonic quadriplegia), 39 (42%) had spastic hemiplegia, 11 (12%) had spastic diplegia (plus two with ataxia and one with dyskinetic CP), and 14 (15%) did not have a well-defined type of CP. The frequency of epilepsy was higher in affected CP children who showed major motor dysfunction (GMFCS IV-V types). As regards the 46 children with CP plus epilepsy, compared to the group of the control, the age of epilepsy onset was found to be statistically significant: 21 ± 35.1 months vs. 67 ± 39.7.

Conclusions: Epilepsy represents one of the most frequent comorbidities of cerebral palsy. In children with CP, particular attention should be paid to the early identification and treatment of comorbid epilepsy.
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http://dx.doi.org/10.3390/children8010016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7823826PMC
December 2020

Neurodevelopmental outcomes of neonatal non-epileptic paroxysmal events: a prospective study.

Dev Med Child Neurol 2021 Mar 18;63(3):343-348. Epub 2020 Dec 18.

Neonatal Intensive Care Unit and Neonatal Accompaniment Unit, Azienda Ospedaliero-Universitaria Policlinico-San Marco, San Marco Hospital, University of Catania, Catania, Italy.

Aim: To report on psychomotor development and outcomes in term born neonates with non-epileptic paroxysmal events (NEPEs).

Method: From October 2017 to March 2019 we enrolled 38 consecutive term born neonates (22 males, 16 females; aged between 0-28d), born at the University Hospital San Marco in Catania, Italy, with NEPEs. We performed the Hammersmith Neonatal Neurological Examination scale (at enrolment), the Hammersmith Infant Neurological Examination (HINE) scale (at age 3, 6, 9, and 12mo), and the Griffiths scale (at age 12mo).

Results: The age at onset of first paroxysmal manifestations ranged from birth to 4 days. We recorded a suboptimal global score in 18 out of 38 patients at enrolment and in 10 out of 38 patients at age 3 months (>70% of these infants were male); all events disappeared within 6 months of life. At age 6, 9, and 12 months, all infants scored within normal values on the HINE and Griffiths scale.

Interpretation: Patients with NEPEs achieve neurodevelopment optimal scores within their first year of life.

What This Paper Adds: Neonates experiencing non-epileptic paroxysmal events (NEPEs) can be examined with the Hammersmith Neonatal Neurological Examination, Hammersmith Infant Neurological Examination, and Griffiths scale at follow-up. Newborn infants with NEPEs achieve optimal scores within the first year of life.
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http://dx.doi.org/10.1111/dmcn.14784DOI Listing
March 2021

A Systematic Review of Pharmacologic and Rehabilitative Treatment of Small Fiber Neuropathies.

Diagnostics (Basel) 2020 Nov 28;10(12). Epub 2020 Nov 28.

Department of Surgical and Oncology Sciences, University of Palermo, 90127 Palermo, Italy.

The aim of this systematic review is to guide the physician in defining the pharmacologic and rehabilitative therapeutic approaches for adopting the best strategies described in the current literature. The search was conducted in PubMed, EMBASE, Cochrane Library and Web of Science to identify the treatment of small fiber neuropathies. Two reviewers independently reviewed and came to a consensus on which articles met inclusion/exclusion criteria. The authors excluded the duplicates, animal studies and included the English articles in which the treatment of patients with small fiber neuropathies was described. The search identified a total of 975 articles with the keywords "small fiber neuropathy" AND "rehabilitation" OR "therapy" OR "treatment". Seventy-eight selected full-text were analyzed by the reviewers. Forty-two publications met the inclusion criteria and were included in the systematic review to describe the rehabilitative and pharmacologic treatment of small fiber neuropathies. Despite the range of different protocols of treatment for small fiber neuropathy, other robust trials are needed. In addition, always different therapeutic approaches are used; a unique protocol could be important for the clinicians. More research is needed to build evidence for the best strategy and to delineate a definitive therapeutic protocol.
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http://dx.doi.org/10.3390/diagnostics10121022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7761307PMC
November 2020

Cyclic Vomiting Syndrome in Children.

Front Neurol 2020 2;11:583425. Epub 2020 Nov 2.

Chair of Pediatrics, Department of Neuroscience, Mental Health and Sense Organs (NESMOS), Faculty of Medicine & Psychology, Sant'Andrea Hospital, Sapienza University of Rome, Rome, Italy.

Cyclic Vomiting Syndrome (CVS) is an underdiagnosed episodic syndrome characterized by frequent hospitalizations, multiple comorbidities, and poor quality of life. It is often misdiagnosed due to the unappreciated pattern of recurrence and lack of confirmatory testing. CVS mainly occurs in pre-school or early school-age, but infants and elderly onset have been also described. The etiopathogenesis is largely unknown, but it is likely to be multifactorial. Recent evidence suggests that aberrant brain-gut pathways, mitochondrial enzymopathies, gastrointestinal motility disorders, calcium channel abnormalities, and hyperactivity of the hypothalamic-pituitary-adrenal axis in response to a triggering environmental stimulus are involved. CVS is characterized by acute, stereotyped and recurrent episodes of intense nausea and incoercible vomiting with predictable periodicity and return to baseline health between episodes. A distinction with other differential diagnoses is a challenge for clinicians. Although extensive and invasive investigations should be avoided, baseline testing toward identifying organic causes is recommended in all children with CVS. The management of CVS requires an individually tailored therapy. Management of acute phase is mainly based on supportive and symptomatic care. Early intervention with abortive agents during the brief prodromal phase can be used to attempt to terminate the attack. During the interictal period, non-pharmacologic measures as lifestyle changes and the use of reassurance and anticipatory guidance seem to be effective as a preventive treatment. The indication for prophylactic pharmacotherapy depends on attack intensity and severity, the impairment of the QoL and if attack treatments are ineffective or cause side effects. When children remain refractory to acute or prophylactic treatment, or the episode differs from previous ones, the clinician should consider the possibility of an underlying disease and further mono- or combination therapy and psychotherapy can be guided by accompanying comorbidities and specific sub-phenotype. This review was developed by a joint task force of the Italian Society of Pediatric Gastroenterology Hepatology and Nutrition (SIGENP) and Italian Society of Pediatric Neurology (SINP) to identify relevant current issues and to propose future research directions on pediatric CVS.
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http://dx.doi.org/10.3389/fneur.2020.583425DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667239PMC
November 2020

Ketogenic diet for infants with epilepsy: A literature review.

Epilepsy Behav 2020 11 28;112:107361. Epub 2020 Sep 28.

Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Italy.

The ketogenic diet (KD) is an established, nonpharmacological treatment for drug-resistant epilepsy (DRE). Actually, KD and its variants have been shown to be elective and resolute for patients with glucose transporter type 1 (GLUT1) deficiency. The aim of this review was to study the use of KD and its variants in infancy, including the neonatal age, and demonstrate the safety and efficacy of this treatment in patients with the age of 0-23 months affected by DRE already subjected to pharmacological approach attempts. A literature search was conducted using PubMed as the medical database source. We used the age limit of 0-23 months, and we considered only articles published between the years 2015 and 2018, in light of increasing interest worldwide in the use of KD and its variants to manage DRE. We included 52 publications: 1 Cochrane study, 22 retrospective studies, 9 prospective studies, 4 randomized controlled trials (RCTs), 12 clinical cases, and 4 clinical reviews. Literature data showed that KD and its variants are safe and useful in patients with the age of 0-23 months with DRE. Classical KD is of first choice in the treatment of GLUT1 deficiency. Earlier introduction of KD in GLUT1 promises a better outcome and a decrease in seizure frequency in these patients.
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http://dx.doi.org/10.1016/j.yebeh.2020.107361DOI Listing
November 2020

Chilblains-like lesions and SARS-CoV-2 in children: An overview in therapeutic approach.

Dermatol Ther 2021 Jan 10;34(1):e14502. Epub 2020 Nov 10.

Unit of Pediatrics and Pediatric Emergency, Pediatric COVID-19 Center, AOU "Policlinico", PO "SanMarco", University of Catania, Catania, Italy.

SARS-CoV-2 (Severe Acute Respiratory Syndrome, Coronavirus, type 2) is the virus responsible for the global pandemic of Coronavirus disease 2019 (COVID-19) that began in China in December 2019. The variability of nasal olfactory symptoms in pediatric patients is interlinked with possible warning signs, including respiratory, gastrointestinal, ocular, or dermatological symptoms. Skin findings in patients with COVID-19 can range from petechiae to papulovesicular rashes to diffuse urticaria and can be confused with rashes of non-COVID-19 conditions. These lesions typically appear early during COVID-19 and are thought to be secondary to viral replication or circulating cytokines. Herein, we discuss two pediatric cases, presenting with skin lesions, which tested positive for SARS-CoV-2, thus, briefly reviewing current literature for similar reports and related management. Although these lesions heal spontaneously in most cases, an adequate "targeted" therapeutic approach can shorten the time and the discomfort of the skin disease.
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http://dx.doi.org/10.1111/dth.14502DOI Listing
January 2021

Cannabidiol Treatment for Refractory Epilepsies in Pediatrics.

Front Pharmacol 2020 29;11:586110. Epub 2020 Sep 29.

Child Neurology, Chair of Pediatrics, NESMOS Department, Faculty of Medicine and Psychology, Sapienza University, Rome, Italy.

Cannabis extracts in oil are becoming increasingly available, and, during the last years, there has been growing public and scientific interest about therapeutic properties of these compounds for the treatment of several neurologic diseases, not just epilepsy. The discovered role of the endocannabinoid system in epileptogenesis has provided the basis to investigate the pharmacological use of exogenously produced cannabinoids, to treat epilepsy. Although, physicians show reluctance to recommend Cannabis extracts given the lack of high-quality safety available data, from literature data cannabidiol (CBD) results to be a promising and safe anticonvulsant drug with low side-effect. In particular, according to early studies, CBD can reduce the frequency of seizures and lead to improvements in quality of life in children affected by refractory epilepsy. So, for these reasons, the detailed study of the interactions between CBD and anticonvulsant drugs (AEDs) administered simultaneously in polytherapy, is arousing increasing interest, to clarify and to assess the incidence of adverse effects and the relation between dose escalation and quality of life measures. To date, in pediatric age, CBD efficacy and safety is not supported by well-designed trials and strong scientific evidence are not available. These studies are either retrospective or small-scale observational and only during the last years Class I evidence data for a pure form of CBD have been available, as demonstrated in placebo-controlled RCTs for patients affected by Lennox-Gastaut syndrome and Dravet syndrome. It is necessary to investigate CBD safety, pharmacokinetics and interaction with other AEDs alongside performing double-blinded placebo-controlled trials to obtain conclusive data on its efficacy and safety in the most frequent epilepsies in children, not just in the epileptic encephalopathy. This review was aimed to revise the available data to describe the scientific evidence for CBD in Pediatric Epilepsies.
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http://dx.doi.org/10.3389/fphar.2020.586110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7550750PMC
September 2020

Diagnostic Clue in a Neonate with Amniotic Band Sequence.

Case Rep Pediatr 2020 1;2020:8892492. Epub 2020 Oct 1.

U. O. di Pediatria, Ospedale Generale di Zona Moriggia-Pelascini Como, Gravedona ed Uniti, Italy.

Amniotic band syndrome (ABS) is a set of congenital malformations that mainly affect the limbs and more rarely the skull, face, chest, and abdomen. Two main hypotheses have been proposed to explain the nature of the disorder: an intrinsic and extrinsic factor. We report a newborn with ABS presenting with several malformations involving both hands and foot. In this case, the malformative event localized at the hands and right foot without involvement of any other internal organs and is asymmetric which leads us to suppose the extrinsic factor as cause of the ABS.
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http://dx.doi.org/10.1155/2020/8892492DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7547359PMC
October 2020

Intronic Variant in Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures.

Front Pediatr 2020 11;8:550. Epub 2020 Sep 11.

Unit of Pediatrics and Pediatric Emergency, University Hospital "Policlinico-Vittorio Emanuele, " Catania, Italy.

Mutations in the contactin-associated protein-like 2 () gene (MIM#604569) encoding for CASPR2, a cell adhesion protein of the neurexin family, are known to be associated with autism, intellectual disability, and other neuropsychiatric disorders. A set of intronic deletions of gene has also been suggested to have a causative role in individuals with a wide phenotypic spectrum, including Pitt-Hopkins syndrome, cortical dysplasia-focal epilepsy syndrome, Tourette syndrome, language dysfunction, and abnormal behavioral manifestations. A 10-years-old boy was referred to the hospital with mild intellectual disability and language impairment. Moreover, the child exhibited minor facial features, epileptic seizures, and notable behavioral abnormalities including impulsivity, aggressivity, and hyperactivity suggestive of the diagnosis of disruptive, impulse-control and conduct disorder (CD). Array comparative genomic hybridization (CGH) revealed a copy number variant (CNV) deletion in the first intron of gene inherited from a healthy father. A comprehensive description of the phenotypic features of the child is provided, revealing a distinct and remarkable alteration of social behavior not previously reported in individuals affected by disorders related to gene disruptions. A possible causative link between the deletion of a non-coding regulatory region and the symptoms presented by the boy has been advanced.
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http://dx.doi.org/10.3389/fped.2020.00550DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7518065PMC
September 2020

Perinatal Femoral Fracture: A Ten-Year Observational Case Series Study.

Children (Basel) 2020 Oct 1;7(10). Epub 2020 Oct 1.

Department of General Surgery and Medical Surgical Specialties, Section of Orthopaedics and Traumatology, University Hospital Policlinico-Vittorio Emanuele, University of Catania, 95123 Catania, Italy.

Background: perinatal femoral fractures (PFF) are relative rare birth-related fractures. Among treatment options, Bryant traction reported satisfactory outcomes in PFF of children under 3 years of age. The aim of this study is to assess the risk factors, diagnosis, management, and outcome in the 10-year multicentric experiences of all newborns treated for PFF in Catania city hospitals.

Methods: 15,628 children, hospitalized in four neonatal units, were retrospectively reviewed. The following data were collected: gender, birth weight, gestational age, presentation, mode delivery, and fracture type according to AO Pediatric Comprehensive Classification of Long Bone Fractures (PCCF). In each case, diagnosis was achieved after the clinical examination and X-Ray exam. Each patient underwent Bryant's skin traction of the affected limb, and was clinically followed for at least two years.

Results: eight newborns were included in the study (five males). The average birth weight was 2.656 kg with a gestational age of 37.5 weeks; 4 cases were preterm birth; 5 patients had a cephalic presentation. According to the AO PCCF classification, three fractures were ranked 32-D/4.1 and five were 32-D/5.1. The entire cohort had an excellent outcome.

Conclusions: prematurity, low birth weight, and caesarean section could be PFF risk factors. Bryant's skin traction is an effective option to achieve an excellent outcome.
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http://dx.doi.org/10.3390/children7100156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7601572PMC
October 2020

A novel GABRB3 variant in Dravet syndrome: Case report and literature review.

Mol Genet Genomic Med 2020 11 18;8(11):e1461. Epub 2020 Sep 18.

Unit of Neonatology University Hospital "Policlinico-Vittorio Emanuele", Catania, Italy.

Background: Mutations in GABRB3 have been identified in subjects with different types of epilepsy and epileptic syndromes, including West syndrome (WS), Dravet syndrome (DS), Lennox-Gastaut syndrome (LGS), myoclonic-atonic epilepsy (MAE), and others.

Methods And Results: We herewith report on a girl affected by DS, who has been followed from infancy to the current age of 18 years. Next-generation sequencing (NGS)-based genetic testing for multigene analysis of neurodevelopmental disorders identified two likely de novo pathogenic mutations, a missense variant in GABRB3 gene (c.842 C>T; p.Thr281IIe) and a nonsense variant found in BBS4 gene (c.883 C>T; p.Arg295Ter).

Conclusion: A likely relationship between the novel GABRB3 gene variant and the clinical manifestations presented by the girl is proposed. Previously, one case of DS and two of DS-like linked with GABRB3 mutations have been reported. To the best of our knowledge, this is the first report of DS associated with this novel variant. A literature review of clinical cases with various types of epileptic encephalopathies (EEs) related to GABRB3 mutations is reported.
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http://dx.doi.org/10.1002/mgg3.1461DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667356PMC
November 2020

Celiac disease and headache in children: a narrative state of the art.

Acta Biomed 2020 09 7;91(3):e2020056. Epub 2020 Sep 7.

Pediatric Clinic, Department of Clinical and Experimental Medicine, University Hospital "Policlinico-Vittorio Emanuele", Catania, Italy.

Celiac disease (CD) is one of the most important entity of the wide spectrum of gluten-related disorders (GRDs). It is well known that neurological manifestation can be present either at the onset of CD, or appear during the development of the pathology, and different can be the neurologic findings. Clinical features are very variable, ranging from typical manifestations of gastrointestinal involvement to neurologic symptom. The most frequent neurologic signs reported were headache, epileptic seizure, migraine, mental retardation, ataxia and attention deficit and hyperactive disorder. Headache either in form of migraine, or in non-specific form represents one of the main clinical presentation in CD. The aim of this work is to provide a narrative review of the pediatric literature focused on the cephalalgic features of children with CD evaluating the potential benefits of a gluten free diet (GFD).  Papers were identified by searching for related literature in Medline (PubMed) and Embase using the words "Celiac Disease" and "Headache" or "Migraine" by specifying "children"/"paediatric age" for reports published since 1972 till 31th October 2018. According to our inclusion criteria, a total of 25 papers has been evaluated. Although it is still controversial if headache is prevalent in CD children a correct compliance to a GFD seems to improve the neurological symptoms even if the underlying pathogenic relationship between CD and neurologic system involvement is still not fully understood.
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http://dx.doi.org/10.23750/abm.v91i3.8224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7717030PMC
September 2020

COVID-19 Pandemic Outbreak and its Psychological Impact on Patients with Rare Lysosomal Diseases.

J Clin Med 2020 Aug 22;9(9). Epub 2020 Aug 22.

Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University of Catania, 95123 Catania, Italy.

Background: Lysosomal storage disorders (LSDs) are rare, chronic, progressive multisystem diseases implying severe medical issues and psychological burden. Some of these disorders are susceptible to a treatment, which is administered weekly or every other week, in a hospital. During the COVID-19 (Corona Virus Disease 2019) pandemic lockdown, patients with LSDs on enzyme replacement therapy (ERT) missed their scheduled access to the Day Hospital to get their treatment.

Methods: Based on the feeling that our patients were experiencing profound distress, we designed a structured telephone interview with the aim to evaluate how, and to which extent, the pandemic outbreak was changing their behavior and feelings about their chronic disease, the impact on therapies, and future expectations. The same interview was administered to an age-matched control group.

Results: All interviewed people experienced an increase of anxiety, worries, and uncertainty fostered by incessant media updates. Moreover, a striking similarity emerged between the groups regarding forced home reclusion and the profound feeling to be excluded by normal life, well-known to those affected by a chronic rare disease.

Conclusions: Although no statistically significant difference was found compared to controls, we felt that the reactions were qualitatively different, underlining the fragility and isolation of such patients.
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http://dx.doi.org/10.3390/jcm9092716DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7563156PMC
August 2020

West syndrome: a comprehensive review.

Neurol Sci 2020 Dec 22;41(12):3547-3562. Epub 2020 Aug 22.

Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, AOU "Policlinico", PO "G. Rodolico", Via S. Sofia, 87, 95128, Catania, Italy.

Since its first clinical description (on his son) by William James West (1793-1848) in 1841, and the definition of the classical triad of (1) infantile spasms; (2) hypsarrhythmia, and (3) developmental arrest or regression as "West syndrome", new and relevant advances have been recorded in this uncommon disorder. New approaches include terminology of clinical spasms (e.g., infantile (IS) vs. epileptic spasms (ES)), variety of clinical and electroencephalographic (EEG) features (e.g., typical ictal phenomena without EEG abnormalities), burden of developmental delay, spectrum of associated genetic abnormalities, pathogenesis, treatment options, and related outcome and prognosis. Aside the classical manifestations, IS or ES may present with atypical electroclinical phenotypes (e.g., subtle spasms; modified hypsarrhythmia) and may have their onset outside infancy. An increasing number of genes, proteins, and signaling pathways play crucial roles in the pathogenesis. This condition is currently regarded as a spectrum of disorders: the so-called infantile spasm syndrome (ISs), in association with other causal factors, including structural, infectious, metabolic, syndromic, and immunologic events, all acting on a genetic predisposing background. Hormonal therapy and ketogenic diet are widely used also in combination with (classical and recent) pharmacological drugs. Biologically targeted and gene therapies are increasingly studied. The present narrative review searched in seven electronic databases (primary MeSH terms/keywords included West syndrome, infantile spasms and infantile spasms syndrome and were coupled to 25 secondary clinical, EEG, therapeutic, outcomes, and associated conditions terms) including MEDLINE, Embase, Cochrane Central, Web of Sciences, Pubmed, Scopus, and OMIM to highlight the past knowledge and more recent advances.
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http://dx.doi.org/10.1007/s10072-020-04600-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7655587PMC
December 2020

A Case of COVID-19 with Late-Onset Rash and Transient Loss of Taste and Smell in a 15-Year-Old Boy.

Am J Case Rep 2020 Aug 20;21:e925813. Epub 2020 Aug 20.

Department of Medical and Surgical Sciences and Advanced Technologies "GF Ingrassia", ENT Section, University of Catania, Catania, Italy.

BACKGROUND The coronavirus disease 2019 (COVID-19) pandemic that spread from China is caused by severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2). The head and neck region can be variably affected in adult patients, and taste and smell disorders are typical manifestations. However, pediatric clinical signs are less severe, making the onset diagnosis challenging to interpret. The variability of nasal olfactory symptoms in children and adolescents is intertwined with possible warning signs, including gastrointestinal, ocular, or dermatological symptoms. We present a case involving a 15-year-old boy with clinically confirmed COVID-19 who had late-onset rash and transient taste and smell disorders. CASE REPORT The boy's clinical history revealed that a family member was positive for SARS-CoV-2. In the preceding 3 days, the boy's eating habits had changed; he perceived a metallic taste while eating and had a loss of appetite. He also had erythematous skin lesions on the lower limbs for the 2 previous days. A sore throat, nasal congestion, and a runny nose were reported on head and neck examination. A real-time polymerase chain reaction test was positive, confirming the initial diagnostic hypothesis. CONCLUSIONS SARS-CoV-2 virus infection in children and adolescents can be asymptomatic, but it can also occur with fever, dry cough, fatigue, and gastrointestinal symptoms. Due to the unique immune characteristics of pediatric and adolescent patients, the correct interpretation of the gustatory and skin symptoms associated with specific laboratory tests for SARS-CoV-2 infection can lead to the most appropriate management and supportive care.
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http://dx.doi.org/10.12659/AJCR.925813DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7467634PMC
August 2020

Primary Microcephaly with Novel Variant of Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis.

J Pediatr Genet 2020 Sep 23;9(3):177-182. Epub 2020 Apr 23.

Department of Pediatrics and Pediatric Emergency, University Hospital, A.U.O. "Policlinico Vittorio Emanuele," Catania, Italy.

This study is a clinical report on twin females affected by primary microcephaly who displayed at molecular analysis of heterozygous novel variant. The twins at the age of 10 years developed, in coincidental time, a diagnosis of autoimmune juvenile thyroiditis. The main clinical features presented by the twins consisted of primary microcephaly with occipitofrontal circumference measuring -2 or -3 standard deviation, facial dysmorphism, typical nonsyndromic microcephaly, and mild intellectual disability. Molecular analysis of the major genes involved in primary microcephaly was performed and the following result was found in the twins: ; chr8.6357416; c.2180 C > T (rs 199861426), p.Pro727. Leu; heterozygous; missense; variant of uncertain significance (class 3). At the age of 10 years, the twins started to have, in coincidental time, marked asthenia and episodes of emotiveness, and laboratory exams disclosed a high level of antithyroid peroxidase leading to the diagnosis of autoimmune juvenile thyroiditis with normal thyroid function. The novel heterozygous variant found in the twins may be directly or indirectly involved in the onset of the primary microcephaly. The thyroid disorder in the twins and its onset, in a coincidental time, confirmed the effect of genetic predisposition on the pathogenesis of the immune thyroiditis.
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http://dx.doi.org/10.1055/s-0040-1710046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7375846PMC
September 2020

Severe Psychotic Symptoms in Youth with PANS/PANDAS: Case-Series.

J Child Adolesc Psychopharmacol 2020 11 17;30(9):567-571. Epub 2020 Jul 17.

U.O. of Pediatric and Pediatric Emergency, University-Hospital "Policlinico-Vittorio Emanuele," University of Catania, Catania, Italy.

To report a case series of children presenting with episodes of abrupt onset psychotic symptoms presumably linked to pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS) and pediatric acute-onset neuropsychiatric syndrome (PANS). Children/adolescents were selected among the group of individuals affected by clinical diagnosis of PANDAS/PANS. One group was selected by affected individuals coming from the Center UMDNJ-New Jersey Medical School, New Jersey, USA and the other from the Department of Pediatrics Catania University, Italy. Child health Questionnaire Parent form 50 was given to parents to describe children's quality of life. Among the group of individuals with PANDAS/PANS disorders, eight children/adolescents were selected, six coming from the UMDNJ-New Jersey and two from Catania, University centers showing among the other typical manifestations severe episodes of abrupt onset of psychotic symptoms. Severe psychotic symptoms may be considered one among the other neuropsychiatric clinical manifestations presenting in individuals with PANDAS/PANS syndromes.
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http://dx.doi.org/10.1089/cap.2020.0050DOI Listing
November 2020

Deciphering the Invdupdel(8p) Genotype-Phenotype Correlation: Our Opinion.

Brain Sci 2020 Jul 15;10(7). Epub 2020 Jul 15.

Department of Clinical and Experimental Medicine, University of Catania, 95100 Catania, Italy.

The 8p inverted duplication/deletion is a rare chromosomal rearrangement clinically featuring neurodevelopmental delay, mild to severe cognitive impairment, heart congenital defects and brain abnormalities. Patients affected also present typical facial dysmorphisms and skeletal malformations, and it is thought that the composite clinical picture may fall into the chromosomal rearrangement architecture. With the major aim of better framing its related clinical and diagnostic paths, we describe a patient carrying a de novo invdupde[8p] whose clinical features have not been described so far. Hence, through an extensive genotype-phenotype correlation analysis and by reviewing the dedicated scientific literature, we compared our patient's features with those reported in other patients, which allows us to place our proband's expressiveness in an intermediate area, widening the scope of the already known invdupde[8p] genotype-phenotype relationship.
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http://dx.doi.org/10.3390/brainsci10070451DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7408450PMC
July 2020

Oxidative Stress in Preterm Infants: Overview of Current Evidence and Future Prospects.

Pharmaceuticals (Basel) 2020 Jul 7;13(7). Epub 2020 Jul 7.

Department of Clinical and Experimental Medicine Section of Pediatrics and Child Neuropsychiatry, AUO San Marco-Policlinco, University of Catania, 95123 Catania, Italy.

Preterm birth (PTB), defined as parturition prior to 37 weeks of gestation, is the leading cause of morbidity and mortality in the neonatal population. The incidence and severity of complications of prematurity increase with decreasing gestational age and birthweight. The aim of this review study is to select the most current evidence on the role of oxidative stress in the onset of preterm complication prevention strategies and treatment options with pre-clinical and clinical trials. We also provide a literature review of primary and secondary studies on the role of oxidative stress in preterm infants and its eventual treatment in prematurity diseases. We conducted a systematic literature search of the Medline (Pubmed), Scholar, and ClinicalTrials.gov databases, retroactively, over a 7-year period. From an initial 777 articles identified, 25 articles were identified that met the inclusion and exclusion criteria. Of these, there were 11 literature reviews: one prospective cohort study, one experimental study, three case-control studies, three pre-clinical trials, and six clinical trials. Several biomarkers were identified as particularly promising, such as the products of the peroxidation of polyunsaturated fatty acids, those of the oxidation of phenylalanine, and the hydroxyl radicals that can attack the DNA chain. Among the most promising drugs, there are those for the prevention of neurological damage, such as melatonin, retinoid lactoferrin, and vitamin E. The microbiome also has an important role in oxidative stress. In conclusion, the most recent studies show that a strong relationship between oxidative stress and prematurity exists and that, unfortunately, there is still little therapeutic evidence reported in the literature.
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http://dx.doi.org/10.3390/ph13070145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7408528PMC
July 2020

Aarskog-Scott syndrome: clinical and molecular characterisation of a family with the coexistence of a novel FGD1 mutation and 16p13.11-p12.3 microduplication.

BMJ Case Rep 2020 Jun 30;13(6). Epub 2020 Jun 30.

ENT Section, University of Catania Department of Surgical and Medical Sciences Advanced Technologies GF Ingrassia, Catania, Sicilia, Italy.

Aarskog-Scott syndrome (AAS), also known as facio-genital dysplasia or faciodigitogenital syndrome, is a rare genetic disorder clinically characterised by facial, limb and genitalanomalies. Although also autosomal dominance and recessive patterns have been reported, up to now, only an X linked form associated to mutations of the gene has been recognised as causative for this syndrome.In this case report, we describe a large Italian family in which three members across three generations show classical features of the syndrome. The youngest patient, the proband, and his mother were both molecularly studied and characterised for the not previously reported variant c.1828C>T (p. Arg610*) in the gene but with the classic phenotype of AAS. Additionally, both the proband and his mother present a 2.5 Mb 16p13.11-p12.3 microduplication, a genetic variant still unclear for the phenotypic consequences: the co-occurrence of the two rare conditions is discussed for the possible clinical significance.
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http://dx.doi.org/10.1136/bcr-2020-235183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7328892PMC
June 2020

Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype.

BMC Med Genet 2020 06 12;21(1):128. Epub 2020 Jun 12.

Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.

Background: Wilson disease (WD) is an Autosomal-Recessive disorder due to mutations of ATP7B gene on chromosome 13q14.3. Inadequate protein function leads to low ceruloplasmin blood levels and copper accumulation in liver, basal ganglia and chornea. Main clinical manifestations are hypertransaminasemia, tremors, dysarthria, dystonia and psychiatric symptoms. The phenotypic variability in WD is considerable and its onset can be heterogeneous: the most common type in childhood is the hepatic involvement, followed by the neurological one or others. The presence of a genotype-phenotype correlation has not yet been fully demonstrated. The phenotypic variability may be explained by the intervention of other modifier genes regulating copper metabolism in the presence of mutations ATP7B.

Case Presentation: A streaking phenotypic variability was observed in two Sicilian sisters carrying the same genotype for ATB7B gene [c.3207C > A / c.3904-2A > G]. Although both started to present signs at age 10 years, onset was characterized by neurological signs in the first (tremors, motor incoordination, language and cognitive impairment), while liver involvement has been the only sign in the other. They started the same chelation therapy. After a 20-year follow-up the former is severely affected (MRI evidence of basal ganglia copper deposits and hyperchogenic liver, thrombocytopenia), while the latter presents only a moderate liver enlargement. In literature, the splice mutation c.3904-2A > G is also reported in Egypt population, associated with acute liver failure or chronic hepatic disease, and it could be typical of Mediterranean area, not being reported in other geographical zones.

Conclusion: Based on our clinical experience in Eastern Sicily, there is a considerable phenotypic variability in WD, even in the presence of an identical genotype. The mutation c.3904-2A > G could be associated with this phenotypic variability in Mediterranean population, but further studies should be conducted. This condition could be explained by the intervention of modifier genes regulating copper metabolism in the presence of defective ATP7B protein function. Further investigations on their role by Next Generation Sequencing or Whole Exome Analysis might have a profound impact on patients' management and in particular on therapy.
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http://dx.doi.org/10.1186/s12881-020-01062-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7291468PMC
June 2020

Clinicoradiographic data and management of children with Chiari malformation type 1 and 1.5: an Italian case series.

Acta Neurol Belg 2020 Jun 10. Epub 2020 Jun 10.

Department of General Surgery and Medical Surgical Specialties, Section of Orthopaedics and Traumatologic Surgery, University of Catania, 95123, Catania, Italy.

Introduction: The widespread use of imaging has increased Chiari malformation (CM) diagnosis. CM shows clinical heterogeneity that makes management controversial. We aimed to evaluate the occurrence and clinical and radiographic presentation of children with CM-1 and CM-1.5, reporting possible differences according to age and management.

Methods: We retrospectively reviewed 46 children diagnosed with CM-1 or CM-1.5, between 2006 and 2019 at our institute. We evaluated for each subject: reason for hospital admission, clinical presentation, age at diagnosis, extent of cerebellar tonsillar herniation (CTH) and type of treatment when carried out. Affected children were assigned to three age groups. In some patients, a clinical follow-up was carried out.

Results: Mean age at diagnosis was 7.61 years. Mean CTH was 8.72 mm. Syringomyelia was found in 10.9%. Twenty-six individuals (56.5%) were symptomatic. The most frequent symptom was headache (34.8%). There were no statistically significant differences between the age groups with regard to the amount of CTH (p = 0.81). Thirteen children (28.3%) underwent surgical treatment. CTH was significantly higher in the surgical group (p < 0.01). Twenty-three patients (50%) performed a 3-year mean follow-up, 17 of whom had no surgery treatment. CTH was stable in 58.8%, reduced in three and increased in three, without any change in symptoms. Only one child showed a worsening in herniation and symptoms, then requiring surgery.

Conclusion: Frequency and type of symptoms were consistent with those reported in the literature. Conservative approach is a viable option for minimally symptomatic patients, most of whom did not show clinical worsening at follow-up.
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http://dx.doi.org/10.1007/s13760-020-01398-zDOI Listing
June 2020

Long-term follow-up and novel genotype-phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2.

Eur J Med Genet 2020 Aug 23;63(8):103957. Epub 2020 May 23.

Pediatric Clinic, Department of Clinical and Experimental Medicine, University Hospital A.U.O. "Policlinico-Vittorio Emanuele", Catania, Italy.

Alternating Hemiplegia of Childhood (AHC) is a rare disorder characterized by frequent, transient attacks of hemiplegia involving either side of the body or both in association to several other disturbances including dystonic spells, abnormal ocular movements, autonomic manifestations, epileptic seizures and cognitive impairment. The clinical manifestations usually start before the age of 18 months. Two forms of the disorder known as AHC-1 (MIM#104290) and AHC-2 (MIM#614820) depends on mutations in ATP1A2 and ATP1A3 genes respectively, with over 75% of AHC caused by a mutation in the ATP1A3 gene. Herewith, we report serial clinical follow-up data of monozygotic (MZ) twin sisters, who presented in early life bath-induced dystonia, signs of acute encephalopathy at the age of 2 years, hemiplegic spells, and motor dysfunction after the age of 3 years, and in young/adult frequent episodes of headache with drastic reduction of paroxysmal motor attacks. The molecular analysis revealed a known pathogenic variant p.Asn773Ser (rs606231437) in ATP1A3 gene associated with an unusual and moderate AHC-2 phenotype, with mild cognitive impairment and lack of epilepsy. The aim of this study is to analyze the clinical phases of the MZ twins, and to investigate the novel genotype-phenotype correlation.
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http://dx.doi.org/10.1016/j.ejmg.2020.103957DOI Listing
August 2020

Silent COVID-19: what your skin can reveal.

Lancet Infect Dis 2021 01 18;21(1):24-25. Epub 2020 May 18.

Department of Clinical and Experimental Medicine, Unit of Infectious Diseases, A.O.U. "G. Martino", University of Messina, Messina, Italy.

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http://dx.doi.org/10.1016/S1473-3099(20)30402-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7234773PMC
January 2021

Speech rehabilitation in dysarthria after stroke: a systematic review of the studies.

Eur J Phys Rehabil Med 2020 Oct 19;56(5):547-562. Epub 2020 May 19.

Section of Pharmacology, Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy.

Introduction: Speech difficulties such as dysarthria or aphasia are frequently seen, in addition to motor impairments, in subjects after stroke.

Evidence Acquisition: Literature searches with the keywords: "stroke" AND "dysarthria" AND "speech therapy" OR "language therapy" were conducted in PubMed, EMBASE, Cochrane Library and Web of Science to perform the systematic review about the several strategies used to treat dysarthria in subjects after stroke. The search was performed independently by two authors (CR and VM) from December 15th 2019 to January 15th 2020, using the PICOS criteria: participants were aging adults (>18 years old) affected by stroke; intervention was based on rehabilitation speech therapy; comparator was any comparator (all logopedic and speech rehabilitation tools); outcomes included clinical assessments, diagnostic scales and acoustic analysis of voice; and study design was RCTs, case series and case report, observational studies. The research identified a total of 94 articles for the first search and 56 for the second search. Sixty selected articles were analyzed by the reviewers. Twenty-five publications met the inclusion criteria and were included in the systematic review. Thirty-three articles were excluded for the following reasons: 12 involved individuals with aphasia or other speech problems different from dysarthria, 10 examined the clinical features of dysarthria, 3 treated on the impact of dysarthria on social participation following stroke, 8 did not include cases after stroke.

Evidence Synthesis: A systematic review was performed to identify the main used speech rehabilitation treatments for dysarthria after stroke. We defined the several techniques to better guide the physician to delineate a speech rehabilitation protocol adopting the better strategies described in the current literature.

Conclusions: This systematic review tried to provide to the reader a complete overview of the literature of all possible different speech treatments for dysarthria after stroke. A correct protocol could permit to improve the communication and the quality of life of these subjects.
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http://dx.doi.org/10.23736/S1973-9087.20.06185-7DOI Listing
October 2020