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1.
Aging Clin Exp Res ; 34(5): 1171-1177, 2022 May.
Article in English | MEDLINE | ID: mdl-34988932

ABSTRACT

BACKGROUND: Low-back pain is a worldwide pain syndrome causing important limitations to daily activity. Common treatment guidelines recommend drugs and exercise. AIM: To evaluate the efficacy of a standardized NeuroMuscular Taping (NMT) lumbar application in reducing pain and improving function associated with back-school therapy (BST). METHODS: Single-blind randomized controlled trial. The experimental group was treated with BTS followed by three applications of NMT over 8 days and the control group who underwent only BST. All patients were evaluated before and at the end of treatment, after 4 and 8 weeks from the end of BST and with a follow-up at distance of three months from the last evaluation, with pain numeric scale, Oswestry disability index and Schober test. RESULTS: Significant pain reduction and functional improvement have been observed in the follow-up evaluations in the experimental group. CONCLUSION: Association of a standardized NMT application to BTS was seen to significantly improve function and reduce pain with longer time efficacy.


Subject(s)
Athletic Tape , Chronic Pain , Low Back Pain , Chronic Pain/therapy , Humans , Low Back Pain/therapy , Lumbosacral Region , Pain Measurement , Single-Blind Method , Treatment Outcome
2.
Pain Med ; 21(9): 1929-1935, 2020 09 01.
Article in English | MEDLINE | ID: mdl-32176287

ABSTRACT

OBJECTIVES: Although pain is a common complication of the hypermobile type of Ehlers-Danlos syndrome, its underlying mechanisms are still an issue of controversy. In this psychophysical study, we aimed at testing small-fiber function and the endogenous pain inhibitory control in patients with pain due to Ehlers-Danlos syndrome. METHODS: In 22 patients with pain due to Ehlers-Danlos syndrome and 22 healthy participants, matched for age and sex, we tested small-fiber function using quantitative sensory testing and the endogenous pain inhibitory control using the conditioned pain modulation (CPM) protocol. As quantitative sensory testing methods, we included thermal pain and mechanical pain thresholds and the wind-up ratio. The CPM protocol consisted of two heat painful stimuli, that is, a test stimulus and a conditioning stimulus. RESULTS: All patients complained of widespread pain. Quantitative sensory testing revealed no small-fiber deficit; in the area of maximum pain, we found an increased wind-up ratio. Whereas in the healthy participants the CPM protocol showed that the test stimulus rating was significantly reduced during conditioning, in patients with pain due to hEDS, the test stimulus rating increased during conditioning. CONCLUSIONS: Our psychophysical study showing that patients with pain due to hEDS have an increased wind-up ratio in the area of maximum pain and abnormal CPM protocol suggests that in this condition, pain is associated with central sensitization, possibly due to deficit of the endogenous pain inhibitory control. These data might be relevant to pharmacological treatment.


Subject(s)
Ehlers-Danlos Syndrome , Ehlers-Danlos Syndrome/complications , Ehlers-Danlos Syndrome/diagnosis , Humans , Pain/etiology , Pain Management , Pain Measurement , Pain Threshold
3.
Neurol Sci ; 41(1): 11-24, 2020 Jan.
Article in English | MEDLINE | ID: mdl-31468237

ABSTRACT

OBJECTIVE: Several focal muscle vibration (fMV) and whole body vibration (WBV) protocols have been designed to promote brain reorganization processes in patients with stroke. However, whether fMV and WBV should be considered helpful tools to promote post-stroke recovery remains still largely unclear. METHODS: We here achieve a comprehensive review of the application of fMV and WBV to promote brain reorganization processes in patients with stroke. By first discussing the putative physiological basis of fMV and WBV and then examining previous observations achieved in recent randomized controlled trials (RCT) in patients with stroke, we critically discuss possible strength and limitations of the currently available data. RESULTS: We provide the first systematic assessment of fMV studies demonstrating some improvement in upper and lower limb functions, in patients with chronic stroke. We also confirm and expand previous considerations about the rather limited rationale for the application of current WBV protocols in patients with chronic stroke. CONCLUSION: Based on available information, we propose new recommendations for optimal stimulation parameters and strategies for recruitment of specific stroke populations that would more likely benefit from future fMV or WBV application, in terms of speed and amount of post-stroke functional recovery.


Subject(s)
Recovery of Function/physiology , Stroke Rehabilitation/methods , Stroke/therapy , Vibration/therapeutic use , Humans , Muscle, Skeletal/physiopathology , Stroke/physiopathology
4.
Sensors (Basel) ; 20(2)2020 Jan 18.
Article in English | MEDLINE | ID: mdl-31963633

ABSTRACT

Lower back pain is an extremely common health problem and globally causes more disability than any other condition. Among other rehabilitation approaches, back schools are interventions comprising both an educational component and exercises. Normally, the main outcome evaluated is pain reduction. The aim of this study was to evaluate not only the efficacy of back school therapy in reducing pain, but also the functional improvement. Patients with lower back pain were clinically and functionally evaluated; in particular, the timed "up and go" test with inertial movement sensor was studied before and after back school therapy. Forty-four patients completed the program, and the results showed not only a reduction of pain, but also an improvement in several parameters of the timed up and go test, especially in temporal parameters (namely duration and velocity). The application of the inertial sensor measurement in evaluating functional aspects seems to be useful and promising in assessing the aspects that are not strictly correlated to the specific pathology, as well as in rehabilitation management.


Subject(s)
Exercise Test , Exercise Therapy , Low Back Pain , Patient Education as Topic , Aged , Aged, 80 and over , Female , Humans , Low Back Pain/physiopathology , Low Back Pain/rehabilitation , Male , Middle Aged , Treatment Outcome , Wearable Electronic Devices
5.
Sensors (Basel) ; 20(11)2020 Jun 07.
Article in English | MEDLINE | ID: mdl-32517315

ABSTRACT

Balance impairment is a major mechanism behind falling along with environmental hazards. Under physiological conditions, ageing leads to a progressive decline in balance control per se. Moreover, various neurological disorders further increase the risk of falls by deteriorating specific nervous system functions contributing to balance. Over the last 15 years, significant advancements in technology have provided wearable solutions for balance evaluation and the management of postural instability in patients with neurological disorders. This narrative review aims to address the topic of balance and wireless sensors in several neurological disorders, including Alzheimer's disease, Parkinson's disease, multiple sclerosis, stroke, and other neurodegenerative and acute clinical syndromes. The review discusses the physiological and pathophysiological bases of balance in neurological disorders as well as the traditional and innovative instruments currently available for balance assessment. The technical and clinical perspectives of wearable technologies, as well as current challenges in the field of teleneurology, are also examined.


Subject(s)
Nervous System Diseases , Postural Balance , Wearable Electronic Devices , Wireless Technology , Accidental Falls/prevention & control , Humans , Nervous System Diseases/diagnosis
6.
Monaldi Arch Chest Dis ; 90(2)2020 May 20.
Article in English | MEDLINE | ID: mdl-32434316

ABSTRACT

There is an association between joint hypermobility, hypermobile Ehlers-Danlos syndrome (hEDS) and different forms of orthostatic intolerance. Objective: to explore autonomic profile in a large cohort of adults with hEDS and hypermobility spectrum disorder (hEDS/HSD) with a multimodal approach. In this observational retrospective study, heart rate, blood pressure and baroreflex sensitivity were estimated in 102 hEDS/HSD subjects during deep breathing, Valsalva maneuver, standing up: 30-15 ratio, Head-Up Tilt and sustained handgrip. Abnormal results and head-up tilt test were common and included postural orthostatic tachycardia syndrome (POTS; 48%), orthostatic intolerance (25.5%) and hypotension (3.9%). Baroreflex sensitivity was significantly different in individuals with POTS compared to the others. This study confirms the high rate and heterogeneity of abnormal autonomic regulation in hEDS/HSD, and suggests the baroreflex sensitivity might distinguish comorbid POTS from other profiles in this subgroup of patients. Abnormal autonomic regulation is common in adults with hEDS/HSD and should be regularly assessed for tailoring the management approach.


Subject(s)
Ehlers-Danlos Syndrome/complications , Ehlers-Danlos Syndrome/physiopathology , Joint Instability/physiopathology , Postural Orthostatic Tachycardia Syndrome/etiology , Adult , Baroreflex/physiology , Blood Pressure , Case-Control Studies , Ehlers-Danlos Syndrome/diagnosis , Female , Hand Strength/physiology , Heart Rate/physiology , Humans , Male , Middle Aged , Phenotype , Postural Orthostatic Tachycardia Syndrome/diagnosis , Respiration , Retrospective Studies , Sympathetic Nervous System/physiopathology , Tilt-Table Test/methods , Valsalva Maneuver/physiology
7.
Int Orthop ; 43(1): 229-235, 2019 01.
Article in English | MEDLINE | ID: mdl-30218180

ABSTRACT

PURPOSE: To evaluate the effects of rotator cuff tear (RCT) and its severity on shoulder proprioception. METHODS: We studied 132 consecutive patients (67 M-65 F; mean age ± SD, 66.03 ± 9.04; range, 43-78) who underwent arthroscopic rotator cuff repair. Tear size was determined intra-operatively. The control group included 82 subjects (38 M-44 F; mean age ± SD, 65.87 ± 8.06; range, 41-75) with no RCT. All participants, wearing an eye mask, were submitted to the evaluation of the joint position sense (JPS) at 30°, 60°, 90°, 120°, and 150° of shoulder forward flexion during the sitting position, using a digital inclinometer securely attached to the subject's arm using hook-and-loop straps. The passive placement and active replacement method was used; the order of the tested angles was randomly selected. The entire test was repeated three times. The error score, by averaging the three trials, was measured as the absolute difference between the target angle and the observed angle. Statistics were performed. RESULTS: The intraclass correlation coefficient for all degrees of flexion movement measured was > 0.90, exhibiting a very high correlation. We found significant differences between cases and controls regarding the results of joint position sense error at all measurements (p < 0.05). According to RCT size, we found significant differences between groups at 30° (F = 27.27, p < 0.001), 90° (F = 5.37, p = 0.006), 120° (F = 10.76, p < 0.001), and 150° (F = 30.93, p < 0.001) of shoulder flexion; in details, patients with massive RCT showed greater absolute error value than those with both small and large RCT at 30°, 90°, 120°, and 150° of shoulder flexion (p < 0.05). CONCLUSIONS: RCT provokes an alteration of shoulder proprioception, evaluated as the loss of joint position sense, and the impairment is related to tear severity.


Subject(s)
Proprioception/physiology , Rotator Cuff Injuries/physiopathology , Rotator Cuff Injuries/surgery , Shoulder/physiopathology , Adult , Aged , Arthroplasty , Arthroscopy , Female , Humans , Male , Middle Aged , Range of Motion, Articular , Rotation , Rotator Cuff/physiopathology , Rotator Cuff/surgery , Rupture , Shoulder/surgery , Shoulder Joint/physiopathology , Shoulder Joint/surgery
8.
Am J Med Genet A ; 173(4): 914-929, 2017 Apr.
Article in English | MEDLINE | ID: mdl-28266107

ABSTRACT

Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome, hypermobility type (EDS-HT) are two overlapping heritable disorders (JHS/EDS-HT) recognized by separated sets of diagnostic criteria and still lack a confirmatory test. This descriptive research was aimed at better characterizing the clinical phenotype of JHS/EDS-HT with focus on available diagnostic criteria, and in order to propose novel features and assessment strategies. One hundred and eighty-nine (163 females, 26 males; age: 2-73 years) patients from two Italian reference centers were investigated for Beighton score, range of motion in 21 additional joints, rate and sites of dislocations and sprains, recurrent soft-tissue injuries, tendon and muscle ruptures, body mass index, arm span/height ratio, wrist and thumb signs, and 12 additional orthopedic features. Rough rates were compared by age, sex, and handedness with a series of parametric and non-parametric tools. Multiple correspondence analysis was carried out for possible co-segregations of features. Beighton score and hypermobility at other joints were influenced by age at diagnosis. Rate and sites of joint instability complications did not vary according to age at diagnosis except for soft-tissue injuries. No major difference was registered by sex and dominant versus non-dominant body side. At multiple correspondence analysis, selected features tend to co-segregate in a dichotomous distribution. Dolichostenomelia and arachnodactyly segregated independently. This study pointed out a more protean musculoskeletal phenotype than previously considered according to available diagnostic criteria for JHS/EDS-HT. Our findings corroborated the need for a re-thinking of JHS/EDS-HT on clinical grounds in order to find better therapeutic and research strategies. © 2017 Wiley Periodicals, Inc.


Subject(s)
Ehlers-Danlos Syndrome/diagnosis , Joint Dislocations/diagnosis , Joint Instability/congenital , Sprains and Strains/diagnosis , Adolescent , Adult , Age Factors , Aged , Anthropometry , Body Mass Index , Child , Child, Preschool , Diagnosis, Differential , Ehlers-Danlos Syndrome/pathology , Female , Humans , Joint Dislocations/pathology , Joint Instability/diagnosis , Joint Instability/pathology , Joints , Male , Middle Aged , Muscle, Skeletal/pathology , Phenotype , Range of Motion, Articular/physiology , Sex Factors , Sprains and Strains/pathology , Tendons/pathology
9.
Pain Pract ; 17(1): 25-31, 2017 01.
Article in English | MEDLINE | ID: mdl-26892176

ABSTRACT

BACKGROUND: Nonpainful tactile and electrical stimulation of the large myelinated fibers reduces spontaneous pain and the amplitude of laser-evoked potentials (LEPs), which represent the most reliable technique to assess the nociceptive pathway function. Focal mechanical vibration stimulates the Aß afferents selectively; thus, it is conceivable its action on nociceptive pathways. AIM: The aim of this study was to investigate the effect of vibratory stimuli, activating either both muscle and skin receptors or cutaneous afferents only on the LEPs and subjective laser-pain rating. METHODS: Ten healthy volunteers were studied. The subjects were evaluated in two different sessions to test muscle and skin receptors or cutaneous afferents only. In each session, LEPs were recorded to stimulation of the dorsal hand skin in radial and ulnar territory bilaterally, while the vibratory stimulus was delivered on the radial territory of the right forearm. RESULTS: The results showed a substantial stability of the potential N1 and N2/P2 after the two protocols, with a declining trend from the initial to the last test of the same session, probably due to habituation. Accordingly, the laser-pain perception did not change during the experimental setting. CONCLUSIONS: We conclude that a vibratory stimulus is ineffective in reducing the laser-evoked potentials and laser-pain perception.


Subject(s)
Laser-Evoked Potentials , Pain Perception/physiology , Vibration , Adult , Female , Humans , Male , Pain/physiopathology , Pain Measurement , Pilot Projects , Young Adult
10.
Am J Med Genet C Semin Med Genet ; 169C(1): 117-22, 2015 Mar.
Article in English | MEDLINE | ID: mdl-25821095

ABSTRACT

Developmental coordination disorder (DCD) is a recognized childhood disorder mostly characterized by motor coordination difficulties. Joint hypermobility syndrome, alternatively termed Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT), is a hereditary connective tissue disorder mainly featuring generalized joint hypermobility (gJHM), musculoskeletal pain, and minor skin features. Although these two conditions seem apparently unrelated, recent evidence highlights a high rate of motor and coordination findings in children with gJHM or JHS/EDS-HT. Here, we investigated the prevalence of gJHM in 41 Italian children with DCD in order to check for the existence of recognizable phenotypic subgroups of DCD in relation to the presence/absence of gJHM. All patients were screened for Beighton score and a set of neuropsychological tests for motor competences (Movement Assessment Battery for Children and Visual-Motor Integration tests), and language and learning difficulties (Linguistic Comprehension Test, Peabody Picture Vocabulary Test, Boston Naming Test, Bus Story Test, and Memoria-Training tests). All patients were also screening for selected JHS/EDS-HT-associated features and swallowing problems. Nineteen (46%) children showed gJHM and 22 (54%) did not. Children with DCD and gJHM showed a significant excess of frequent falls (95 vs. 18%), easy bruising (74 vs. 0%), motor impersistence (89 vs. 23%), sore hands for writing (53 vs. 9%), attention deficit/hyperactivity disorder (89 vs. 36%), constipation (53 vs. 0%), arthralgias/myalgias (58 vs. 4%), narrative difficulties (74 vs. 32%), and atypical swallowing (74 vs. 18%). This study confirms the non-causal association between DCD and gJHM, which, in turn, seems to increase the risk for non-random additional features. The excess of language, learning, and swallowing difficulties in patients with DCD and gJHM suggests a wider effect of lax tissues in the development of the nervous system.


Subject(s)
Attention Deficit Disorder with Hyperactivity/physiopathology , Deglutition Disorders/physiopathology , Ehlers-Danlos Syndrome/physiopathology , Motor Skills Disorders/physiopathology , Attention Deficit Disorder with Hyperactivity/complications , Attention Deficit Disorder with Hyperactivity/diagnosis , Child , Child, Preschool , Deglutition Disorders/complications , Deglutition Disorders/diagnosis , Ehlers-Danlos Syndrome/complications , Ehlers-Danlos Syndrome/diagnosis , Female , Humans , Language , Learning Disabilities/complications , Learning Disabilities/physiopathology , Male , Motor Skills Disorders/complications , Motor Skills Disorders/diagnosis , Speech , Surveys and Questionnaires
11.
Am J Med Genet C Semin Med Genet ; 169C(1): 84-96, 2015 Mar.
Article in English | MEDLINE | ID: mdl-25655119

ABSTRACT

Ehlers-Danlos syndrome (EDS) is an umbrella term for a growing group of hereditary disorders of the connective tissue mainly manifesting with generalized joint hypermobility, skin hyperextensibility, and vascular and internal organ fragility. In contrast with other well known heritable connective tissue disorders with severe cardiovascular involvement (e.g., Marfan syndrome), most EDS patients share a nearly normal life span, but are severely limited by disabling features, such as pain, fatigue and headache. In this work, pertinent literature is reviewed with focus on prevalence, features and possible pathogenic mechanisms of headache in EDSs. Gathered data are fragmented and generally have a low level of evidence. Headache is reported in no less than 1/3 of the patients. Migraine results the most common type in the hypermobility type of EDS. Other possibly related headache disorders include tension-type headache, new daily persistent headache, headache attributed to spontaneous cerebrospinal fluid leakage, headache secondary to Chiari malformation, cervicogenic headache and neck-tongue syndrome, whose association still lacks of reliable prevalence studies. The underlying pathogenesis seems complex and variably associated with cardiovascular dysautonomia, cervical spine and temporomandibular joint instability/dysfunction, meningeal fragility, poor sleep quality, pain-killer drugs overuse and central sensitization. Particular attention is posed on a presumed subclinical cervical spine dysfunction. Standard treatment is always symptomatic and usually unsuccessful. Assessment and management procedures are discussed in order to put some basis for ameliorating the actual patients' needs and nurturing future research.


Subject(s)
Ehlers-Danlos Syndrome/physiopathology , Headache/physiopathology , Neck Pain/physiopathology , Connective Tissue/pathology , Disease Management , Ehlers-Danlos Syndrome/complications , Fatigue/etiology , Fatigue/pathology , Headache/etiology , Humans , Neck Pain/etiology
12.
Am J Med Genet C Semin Med Genet ; 169C(1): 43-53, 2015 Mar.
Article in English | MEDLINE | ID: mdl-25655071

ABSTRACT

Cutaneous manifestations are a diagnostic criterion of Ehlers-Danlos syndrome, hypermobility type (EDS-HT) and joint hypermobility syndrome (JHS). These two conditions, originally considered different disorders, are now accepted as clinically indistinguishable and often segregate as a single-familial trait. EDS-HT and JHS are still exclusion diagnoses not supported by any specific laboratory test. Accuracy of clinical diagnosis is, therefore, crucial for appropriate patients' classification and management, but it is actually hampered by the low consistency of many applied criteria including the cutaneous one. We report on mucocutaneous findings in 277 patients with JHS/EDS-HT with both sexes and various ages. Sixteen objective and five anamnestic items were selected and ascertained in two specialized outpatient clinics. Feature rates were compared by sex and age by a series of statistical tools. Data were also used for a multivariate correspondence analysis with the attempt to identify non-causal associations of features depicting recognizable phenotypic clusters. Our findings identified a few differences between sexes and thus indicated an attenuated sexual dimorphism for mucocutaneous features in JHS/EDS-HT. Ten features showed significantly distinct rates at different ages and this evidence corroborated the concept of an evolving phenotype in JHS/EDS-HT also affecting the skin. Multivariate correspondence analysis identified three relatively discrete phenotypic profiles, which may represent the cutaneous counterparts of the three disease phases previously proposed for JHS/EDS-HT. These findings could be used for revising the cutaneous criterion in a future consensus for the clinical diagnosis of JHS/EDS-HT.


Subject(s)
Ehlers-Danlos Syndrome/diagnosis , Joint Instability/congenital , Skin Abnormalities/diagnosis , Adolescent , Adult , Aged , Atrophy/pathology , Child , Child, Preschool , Cicatrix/pathology , Ehlers-Danlos Syndrome/genetics , Ehlers-Danlos Syndrome/physiopathology , Female , Humans , Joint Instability/diagnosis , Joint Instability/genetics , Joint Instability/physiopathology , Male , Middle Aged , Phenotype , Skin Abnormalities/genetics , Skin Abnormalities/physiopathology
13.
Neurol Sci ; 36(8): 1417-24, 2015 Aug.
Article in English | MEDLINE | ID: mdl-25791889

ABSTRACT

Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome, hypermobility type (EDS-HT) are two clinically overlapping heritable connective tissue disorders strongly associated with musculoskeletal pain, fatigue and headache. Migraine with or without aura is considered the most common form of headache in JHS/EDS-HT. In this population of chronically ill patients, we investigated whether migraine characteristics were different from those of a control population of migraine patients. The study was carried out on 33 selected JHS/EDS-HT patients, diagnosed according to current criteria. Sixty-six migraine subjects matching age and gender were consecutively selected as controls (MO group) among patients attending our Headache Clinic. JHS/EDS-HT and MO were screened for a series of headache characteristics, such as frequency, intensity, age of onset, level of disability, use of rescue and prophylactic medications. Differences between the two groups were tested by using independent group comparisons. Results showed that in JHS/EDS-HT: (1) migraine has an earlier onset (12.6 vs 17 years of age; p = 0.005); (2) the rate of migraine days/month is higher (15 vs 9.3 days/month; p = 0.01); (3) accompanying symptoms are usually more frequent; (4) HIT-6 and MIDAS scores are higher (p = 0.04 and p = 0.03); (5) efficacy of rescue medication is almost identical, although, total drug consumption is significantly lower (p < 0.04). Joint hypermobility syndrome and Ehlers-Danlos syndrome, hypermobility type patients have a more severe headache syndrome with respect to the MO group, therefore demonstrating that migraine has a very high impact on quality of life in this disease.


Subject(s)
Ehlers-Danlos Syndrome/complications , Joint Instability/congenital , Joint Instability/complications , Migraine Disorders/diagnosis , Migraine Disorders/etiology , Adult , Female , Humans , Male , Middle Aged , Neurologic Examination , Statistics, Nonparametric , Surveys and Questionnaires , Young Adult
14.
Aging Clin Exp Res ; 27(6): 857-63, 2015 Dec.
Article in English | MEDLINE | ID: mdl-25850540

ABSTRACT

BACKGROUNDS: Different and new approaches have been proposed to prevent the risk of falling of elderly people, particularly women. AIMS: This study investigates the possibility that a new protocol based on the focal mechanical muscle vibration may reduce the risk of falling of elderly women. METHODS: A pragmatic randomized controlled triple-blind trial with a 6-month follow-up after intervention randomized 350 women (mean age 73.4 years + 3.11), members of local senior citizen centers in Rome, into two groups: vibrated group (VG) and control group (CG). For VG participants a mechanical vibration (lasting 10 min) was focally applied on voluntary contracted quadriceps muscles, three times a day during three consecutive days. CG subjects received a placebo vibratory stimulation. Subjects were tested immediately before (T0) and 30 (T1) and 180 (T2) days after the intervention with the Performance-Oriented Mobility Assessment (POMA) test. All subjects were asked not to change their lifestyle during the study. CG underwent sham vibratory treatment. RESULTS: While CG did not show any statistically significant change of POMA at T1 and T2, VG revealed significant differences. At T2, ≈47% of the subjects who completed the study obtained the full score on the POMA test and ≈59% reached the full POMA score. CONCLUSIONS: The new protocol seems to be promising in reducing the risk of falling of elderly subjects.


Subject(s)
Accidental Falls/prevention & control , Physical Therapy Modalities , Postural Balance , Vibration/therapeutic use , Aged , Female , Geriatric Assessment/methods , Humans , Quadriceps Muscle/physiology , Risk Assessment/methods , Treatment Outcome
15.
Am J Med Genet A ; 164A(12): 3010-20, 2014 Dec.
Article in English | MEDLINE | ID: mdl-25338840

ABSTRACT

Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome, hypermobility type (EDS-HT) are two markedly overlapping heritable connective tissue disorders. The cumulative frequency of JHS and EDS-HT seems high, but their recognition remains an exclusion diagnosis based on different sets of diagnostic criteria. Although proposed by a panel of experts, clinical identity between JHS and EDS-HT is still a matter of debate due to unknown molecular basis. We present 23 families with three or more individuals with a diagnosis of JHS and/or EDS-HT. Rough data from the 82 individuals were used to assess the frequency of major and minor criteria, as well as selected additional features. A series of statistical tools were applied to assess intrafamilial and interfamilial variability, emphasizing intergenerational, and intersex differences. This study demonstrates marked heterogeneity within and between families in terms of agreement of available diagnostic criteria. In 21 pedigrees affected individuals belong to two or three phenotypic sub-categories among JHS, EDS-HT, and JHS + EDS-HT overlap. Intergenerational analysis depicts a progressive shifting, also within the same pedigree, from EDS-HT in childhood, to JHS + EDS-HT in early adulthood and JHS later in life. Female-male ratio is 2.1:1, which results lower than previously observed in unselected patients' cohorts. In these pedigrees, JHS, EDS-HT, and JHS + EDS-HT segregate as a single dominant trait with complete penetrance, variable expressivity, and a markedly evolving phenotype. This study represents a formal demonstration that EDS-HT and JHS contitute the same clinical entity, and likely share the same genetic background, at least, in familial cases.


Subject(s)
Ehlers-Danlos Syndrome/epidemiology , Ehlers-Danlos Syndrome/genetics , Inheritance Patterns/genetics , Joint Instability/epidemiology , Joint Instability/genetics , Phenotype , Diagnosis, Differential , Ehlers-Danlos Syndrome/classification , Female , Humans , Italy/epidemiology , Joint Instability/classification , Male , Pedigree , Surveys and Questionnaires
16.
Rheumatol Int ; 34(5): 631-6, 2014 May.
Article in English | MEDLINE | ID: mdl-24272065

ABSTRACT

Joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) is a largely unrecognized, heritable connective tissue disorder, mainly characterized by joint instability complications, widespread musculoskeletal pain, and minor skin features. In a case-control study, 47 consecutive JHS/EDS-HT patients were investigated for the prevalence of psychiatric disorders and compared to 45 healthy controls in a single center. The psychiatric evaluation consisted of structured clinical interview for DSM-IV criteria by using the SCID-I and the SCID-II. Symptom severity was assessed using the Hamilton Anxiety Rating Scale (HAM-A), the Hamilton Depression Rating Scale (HAM-D), and the Brief Psychiatric Rating Scale (BPRS). The Global Assessment of Functioning Scale (GAF) was used to assess the overall severity of psychological, social, and occupational functions. JHS/EDS-HT patients had significantly higher mean scores for all questionnaires: HAM-A (6.7 vs. 3.8), HAM-D (6.4 vs. 2.7), GAF (75.0 vs. 86.1), and BPRS (27.5 vs. 25.6). The JHS/EDS-HT group had a 4.3 higher risk of being affected by any psychiatric disorder, and in particular, a 5.8 higher risk of having a personality disorder. In particular, 5 JHS/EDS-HT suffered from obsessive-compulsive personality disorder with an observed prevalence rate of 10.6 % (3.6-23.1). Psychiatric assessment of JHS/EDS-HT patients showed an extremely high prevalence of personality disorders (21 %), and of Axis-I disorders (38 %), mostly depressive. This study did not confirm the previously reported increased rate of panic disorders in JHS/EDS-HT.


Subject(s)
Compulsive Personality Disorder/epidemiology , Ehlers-Danlos Syndrome/epidemiology , Joint Instability/epidemiology , Adult , Case-Control Studies , Compulsive Personality Disorder/diagnosis , Compulsive Personality Disorder/psychology , Ehlers-Danlos Syndrome/diagnosis , Humans , Joint Instability/diagnosis , Male , Prevalence , Psychiatric Status Rating Scales , Risk Assessment , Risk Factors , Rome/epidemiology , Severity of Illness Index , Surveys and Questionnaires , Young Adult
17.
Am J Med Genet A ; 161A(12): 2989-3004, 2013 Dec.
Article in English | MEDLINE | ID: mdl-24254847

ABSTRACT

Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome, hypermobility type (EDS-HT) are two clinically overlapping connective tissue disorders characterized by chronic/recurrent pain, joint instability complications, and minor skin changes. Fatigue and headache are also common, although are not yet considered diagnostic criteria. JHS/EDS-HT is a unexpectedly common condition that remains underdiagnosed by most clinicians and pain specialists. This results in interventions limited to symptomatic and non-satisfactory treatments, lacking reasonable pathophysiologic rationale. In this manuscript the fragmented knowledge on pain, fatigue, and headache in JHS/EDS is presented with review of the available published information and a description of the clinical course by symptoms, on the basis of authors' experience. Pathogenic mechanisms are suggested through comparisons with other functional somatic syndromes (e.g., chronic fatigue syndrome, fibromyalgia, and functional gastrointestinal disorders). The re-writing of the natural history of JHS/EDS-HT is aimed to raise awareness among clinical geneticists and specialists treating chronic pain conditions about pain and other complications of JHS/EDS-HT. Symptoms' clustering by disease stage is proposed to investigate both the molecular causes and the symptoms management of JHS/EDS-HT in future studies.


Subject(s)
Ehlers-Danlos Syndrome/physiopathology , Joint Instability/physiopathology , Pain/physiopathology , Ehlers-Danlos Syndrome/complications , Ehlers-Danlos Syndrome/diagnosis , Fatigue/complications , Headache/complications , Headache/physiopathology , Humans , Joint Instability/complications , Joint Instability/diagnosis , Pain/etiology
18.
Brain Sci ; 13(4)2023 Apr 15.
Article in English | MEDLINE | ID: mdl-37190629

ABSTRACT

Background: The ability to perceive two tactile stimuli as asynchronous can be measured using the somatosensory temporal discrimination threshold (STDT). In healthy humans, the execution of a voluntary movement determines an increase in STDT values, while the integration of STDT and movement execution is abnormal in patients with basal ganglia disorders. Sensorimotor integration can be modulated using focal muscle vibration (fMV), a neurophysiological approach that selectively activates proprioceptive afferents from the vibrated muscle. Method: In this study, we investigated whether fMV was able to modulate STDT or STDT-movement integration in healthy subjects by measuring them before, during and after fMV applied over the first dorsalis interosseous, abductor pollicis brevis and flexor radialis carpi muscles. Results: The results showed that fMV modulated STDT-movement integration only when applied over the first dorsalis interosseous, namely, the muscle performing the motor task involved in STDT-movement integration. These changes occurred during and up to 10 min after fMV. Differently, fMV did not influence STDT at rest. We suggest that that fMV interferes with the STDT-movement task processing, possibly disrupting the physiological processing of sensory information. Conclusions: This study showed that FMV is able to modulate STDT-movement integration when applied over the muscle involved in the motor task. This result provides further information on the mechanisms underlying fMV, and has potential future implications in basal ganglia disorders characterized by altered sensorimotor integration.

19.
Brain Sci ; 13(7)2023 Jul 08.
Article in English | MEDLINE | ID: mdl-37508973

ABSTRACT

Ehlers-Danlos syndromes are a heterogeneous group of Heritable Connective Tissue Disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Among the different types, the hypermobile Ehlers-Danlos syndrome is the most frequent and includes generalized joint hypermobility as the major diagnostic criterion. Joint hypermobility in hypermobile Ehlers-Danlos syndrome is often associated with pain that does not always allow the use of effective pain-reducing treatments. Patients with hEDS constantly describe their pain in detail. Eighty-nine patients with hEDS diagnoses were recruited and evaluated. They were asked to describe their pain in writing. The texts were examined through Linguistic Inquiry and Word Count. Correlational analyses were conducted between pain perception and language. A comparison of high/low pain perception and the quality of metaphors was carried out. The results showed that language quality varies depending on how much pain is perceived. The greater the pain is perceived, the lesser the positive effects and the greater the negative effects and dehumanizing metaphors are being used. Moreover, a greater pain seems to be related to a verbal experience of greater isolation and less self-care. In conclusion, the use of metaphors is a useful tool for examining illness experience and may help clinicians in the rehabilitation program.

20.
Front Neurol ; 14: 1072785, 2023.
Article in English | MEDLINE | ID: mdl-36970542

ABSTRACT

Objectives: Migraine is one of the most frequent clinical manifestations of hypermobile Ehlers-Danlos syndrome (hEDS). The comorbidity between these two diseases has been only partially investigated. We aimed to observe whether neurophysiological alterations described in migraineurs in visual evoked potentials (VEPs) were present in hEDS patients with migraine. Methods: We enrolled 22 hEDS patients with migraine (hEDS) and 22 non-hEDS patients with migraine (MIG), with and without aura (according to ICHD-3), as well as 22 healthy controls (HC). Repetitive pattern reversal (PR)-VEPs were recorded in basal conditions in all participants. During uninterrupted stimulation, 250 cortical responses were recorded (4,000 Hz sample rate) and divided into epochs of 300 ms after the stimulus. Cerebral responses were divided into five blocks. The habituation was calculated as the slope interpolating the amplitudes in each block, for both the N75-P100 and P100-N145 components of PR-VEP. Results: We observed a significant habituation deficit of the P100-N145 component of PR-VEP in hEDS compared to HC (p = 0.002), unexpectedly more pronounced than in MIG. We observed only a slight habituation deficit of N75-P100 in hEDS, with a slope degree that was intermediate between MIG and HC. Discussion: hEDS patients with migraine presented an interictal habituation deficit of both VEPs components like MIG. Pathophysiological aspects underlying the pathology could account for the peculiar pattern of habituation in hEDS patients with migraine characterized by a pronounced habituation deficit in the P100-N145 component and a less clear-cut habituation deficit in the N75-P100 component with respect to MIG.

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