Abnormal sympathetic skin response in patients with autoimmune vitiligo and primary autoimmune hypothyroidism

The sympathetic skin response was studied in 21 patients with autoimmune vitiligo or hypothyroidism or both. No response to stimulation was found in 6 patients, but 4 with both diseases showed abnormal results. Sympathetic skin response is useful in evaluating sudo motor activity of the autonomic nervous system, and it is concluded that patients with autoimmune vitiligo, auto immune hypothyroidism and especially those with both diseases show evidence of sudomotor dysfunction.     

Tracheomalacia in patients with severe motor and intellectual disabilities

A total of 18 patients with severe motor and intellectual disabilities are reported, including 17 identified as having tracheomalacia (TM) by bronchofiberscopy and 1 suspected case. The clinical backgrounds, bronchoscopic findings, managements and outcomes of these patients were studied. The ages ranged from 2 to 41 years old (mean : 22.8 years). Fourteen patients had cerebral palsy and 4 had other neuromuscular diseases. More than 80% of the patients had flattening of the thoracic cage, scoliosis, and recurrent respiratory infections. Bronchofiberoptic videoscopy revealed a mean 73.6% narrowing of the trachea, and 3 cases had 100% obstruction. The crescent type and a newly identified flat type of TM were observed, but there was no saber-sheath type. Attacks of cyanosis and transient or sudden respiratory difficulties were important symptoms for TM in 13 cases. TM may cause sudden death in these patients. Tracheostomy may be recommended for severe cases with TM. An adjustable tracheostomy tube improved the narrowing of the trachea significantly in 6 cases. Bronchofiberoptic videoscopy is nessesary for accurate evaluation of TM and an adjustable tracheostomy tube may be useful for selected patients.     

The sympathetic skin response in peripheral autonomic failure — evaluation in pure autonomic failure, pure cholinergic dysautonomia and dopamine-beta-hydroxylase deficiency

The sympathetic skin response (SSR) detects changes in the electrical potential in the skin in response to physiological and electrical stimuli and, therefore, may indicate the integrity of sympathetic cholinergic neural pathways to sweat glands. This has been evaluated in 21 patients with three different forms of peripheral autonomic failure. Of these, 15 had pure autonomic failure (PAF) without additional neurological features; investigations indicated both sympathetic and parasympathetic failure. Four patients had pure cholinergic dysautonomia (PCD), with clinical and laboratory features indicating only cholinergic failure. Two siblings had dopamine-betahydroxylase (DBH) deficiency with only sympathetic adrenergic failure. None was on drugs affecting cholinergic function. Ten normal individuals were aged-matched with PAF patients and studied as controls. The SSR was recorded from the palmar hand and plantar foot surfaces, using previously described techniques, in response to physiological (auditory, cough and inspiratory gasp) and electrical stimuli. Nerve conduction studies excluded an associated motor or sensory neuropathy.The SSR was present in all normal individuals, and in both patients with DBH deficiency who had preserved cholinergic and subdomotor function. It was absent in all 15 PAF and all four PCD patients with impaired cholimergic function. Therefore, we conclude that the SSR reflected sympathetic cholinergic function in these three different groups with peripheral autonomic failure. Clin Auton Res 8:133–138     

The significance of intact sympathetic skin responses in carpal tunnel syndrome

The current study aimed to investigate the impact of carpal tunnel syndrome (CTS) on sympathetic skin response (SSR) recorded from the median and ulnar territory. Thirty patients were studied and idiopathic CTS was documented in a total of 46 hands. These were classified, according to electrophysiological criteria, into two groups; a group of 31 hands with severe CTS and a group of 15 hands with mild/moderate CTS, and were compared with a group of 30 hands of age-matched controls. SSR was recorded simultaneously from the median and ulnar side of the palm following electrical stimulation at the wrist, in a mid-point between median and ulnar nerve. Latency, amplitude, habituation and the median-to-ulnar ratio were estimated. In all controls clear recordings of SSR were obtained. In the patient groups, absence of SSR was never observed either in mild/moderate or in the severe CTS hands. The mean SSR latency and amplitude values recorded from both the median and ulnar nerves did not significantly differ between mild/moderate or severe CTS hands and controls. Likewise, the median-to-ulnar ratio and habituation of SSR latencies and amplitudes did not significantly differ between groups. SSR does not seem to be a sensitive method for evidence of autonomic involvement in CTS, even in patients manifesting sudomotor or other autonomic symptoms. In the present setting, SSR appeared to be independent of somatic afferent function and the corresponding sensory action potentials.     

Skin temperature responses to cold stress in patients with severe motor and intellectual disabilities

Patients with severe motor and intellectual disabilities (SMID) often suffer from autonomic nervous system disturbances. At the same time, the caregivers of patients with SMID face challenges to understand the patients’ chronic health problems effectively by simply observing them. Therefore, recognizing specific symptoms is important to improve support for SMID. We investigated the autonomic nervous function in patients with SMID with skin vasomotor responses to cold stimuli. The relationship of the results of cold stress and autonomic symptoms observed by the main caretakers was also examined. We analyzed 38 patients with SMID. Their hand skin temperature was measured before and after cold stimuli using infrared thermography. A ‘distal-dorsal difference’ (DDD) at baseline, and the recovery rate of the second fingertip and dorsum were calculated. All main caregivers filled out questionnaires evaluating autonomic symptoms. The recovery rate of the second fingertip and dorsum after cold stimuli was lower than 80% in 64% and 60% patients, respectively. The baseline DDD was greater than 1 °C in 84% of the patients. A DDD > 1 °C was associated with a reduced recovery rate. All caregivers recognized some autonomic-related symptoms. Patients with constipation or snoring demonstrated a reduced recovery rate. However, none of the observed symptoms can predict the presence of a reduced rate with cold stimuli in a statistically significant way. This study showed excessive sympathetic nerve activities in patients with SMID. The baseline DDD could be a valuable parameter accessing their microvascular circulation. To improve the life of a person with SMID, accessing autonomic function using a noninvasive method, such as thermography is warranted without directly observed symptoms.     

Autonomic dysfunction in multiple sclerosis: correlation with disease-related parameters

Cardiovascular autonomic functions were investigated in a prospective, controlled study of 22 consecutive relapsing-remitting multiple sclerosis (MS) patients and 22 healthy subjects using 5 simple noninvasive tests and sympathetic skin response testing. Tests included the heart rate response to deep breathing, valsalva maneuver and standing, blood pressure response to standing and sustained hand grip, and were graded according to the Ewing and Clark classification as early, definite or severe impairment. The relationship between autonomic dysfunction and disease-related parameters such as the expanded disability status scale (EDSS) and disease duration was studied. Ninety percent of the patients had symptoms related with autonomic dysfunction, and 45.5 % had abnormal results in cardiovascular autonomic function testing with 4 patients also having abnormal sympathetic skin responses. Statistical analysis indicated that patients with a long disease duration rather than high EDSS carried a risk of autonomic involvement in MS. Both parasympathetic and sympathetic functions were impaired and this could have been easily overlooked by a standard EDSS follow-up. In this regard, autonomic function testing seems necessary in order to detect subclinical changes in MS patients and should be considered in outcome measures.     

Epilepsy in school children with intellectual impairments in Sheffield: the size and nature of the problem and the implications for service provision

ABSTRACT. This study analyses the prevalence and nature of epilepsy in all children between the ages of 5 and 16 years of age in the City of Sheffield with mild, moderate or severe intellectual impairments. An overall figure of 18% was obtained with a range of 7% for those with mild to moderate intellectual impairments to 67% for those with severe intellectual impairments and a physical disability. The severity of the epilepsy similarly varied with the most severe being in those with severe intellectual impairments and physical disabilities.     

Surgical procedure for gastroesophageal reflux disease in patients with severe motor and intellectual disabilities: problems and prognosis

Gastroesophageal reflux disease (GERD) is a complications of patients with severe motor and intellectual disabilities. We examined on 17 patients who operated with GERD. They were divided into 2 groups. Group 1 was comprised of young cases with severe spasticity and chronic respiratory insufficiency. They were under 23 years old. Group 2 with severe intellectual disabilities, aerophagia and/or rumination. They were around 30 years old. Older patients had deformities of the stomach and esophagus. After the operations, fourteen patients had a fair prognosis, three had persistent gastroesophageal reflux (GER), and six patients had subsequent relapse of their GER, and two died.     

RR interval variation and the sympathetic skin response in the assessment of autonomic function in peripheral neuropathy

The diagnostic value of two simple tests of autonomic function, the RR interval variation and the sympathetic skin response, was evaluated relative to symptoms of dysautonomia in 53 patients with peripheral neuropathy. Of 22 patients with peripheral neuropathy and clinical dysautonomia, 15 showed abnormal results on both tests, and 7 had abnormal results on one test only. In none of the patients with dysautonomia were both tests' results normal. Conversely, all 15 patients with abnormal results of both sympathetic skin response and RR interval variation had symptoms of dysautonomia, while 7 of 15 patients with abnormalities limited to one test had such symptoms. No patient with normal results on both tests had clinical dysautonomia. These data indicate that RR interval variation and sympathetic skin response, both of which can easily be performed in the electromyography laboratory, are helpful in combination in the assessment of autonomic function in peripheral neuropathies.     

Sympathetic skin response differentiates hereditary sensory autonomic neuropathies III and IV.

OBJECTIVE: To evaluate whether sympathetic skin response (SSR) differs in patients with hereditary sensory autonomic neuropathy (HSAN) types III and IV. BACKGROUND: HSAN types III and IV are rare autosomal recessive disorders that cause many similar autonomic, sensory, and motor dysfunctions, but different sweating characteristics. HSAN III patients have preserved and at times, excessive sweating, whereas anhidrosis is characteristic of HSAN IV. SSR reflects the integrity of sympathetic sudomotor fibers and the activation of sweat glands through the change in skin resistance in response to an arousal stimulus. Therefore, SSR is a test method that might facilitate differential diagnosis of HSAN III and IV. METHODS: In 17 HSAN III patients (eight women, nine men; mean age, 20.65+/-5.45 years) and seven HSAN IV patients (five girls, two boys; mean age, 10.0+/-5.45 years) SSR was recorded from the palms and soles after repeated electrical, acoustic, and inspiratory gasp stimulations. In addition, all subjects underwent a neurologic examination; studies of median, peroneal motor, and sural nerve conduction velocities; and determination of vibratory and thermal perception thresholds. RESULTS: Although clinical differences were appreciated between the two types of HSANs, both HSANs had evidence of small-fiber involvement. Both HSANs had abnormal temperature and pain perception. In contrast, SSR was preserved in all HSAN III and absent in all HSAN IV patients. CONCLUSION: SSR provides another parameter to improve differentiation of HSAN III from HSAN IV, and also gives us additional information regarding sympathetic sudomotor fiber function in these developmental diseases.     

Instruments for the evaluation of motor abilities for children with severe multiple disabilities: A systematic review of the literature

Based on a systematic review, psychometric characteristics of currently available instruments on motor abilities of children with disabilities were evaluated, with the aim to identify candidates for use in children with severe multiple (intellectual and motor) disabilities. In addition, motor abilities are essential for independent functioning, but are severely compromised in these children.The methodological quality of all studies was evaluated with the Consensus Based Standards for the Selection of Health Status Measurement Instruments (COSMIN) Checklist; overall levels of evidence per instrument were based on the Cochrane Back Review Group strategy.As a result, 18 studies with a total of eight instruments, developed for children with cerebral palsy (CLA, GMFM-88 and LE85), spinal muscular atrophy (MHFMS), neuromuscular diseases (MFM), disabilities 0–6 years (VAB, WeeFIM), and one developed specifically for children with severe multiple disabilities (TDMMT) were found.Strong levels of evidence were found for construct validity of LE85 and MFM and for responsiveness of WeeFIM, but reliability studies of these instruments had a limited methodological quality. Up to now studies of the TDMMT resulted in limited and unknown evidence for structural validity due to the poor methodological quality of reliability studies.In a next step, the clinical suitability of the instruments for children with severe multiple disabilities will be evaluate.     

Relationships between gross- and fine motor functions,cognitive abilities,and self-regulatory aspects of students with physical disabilities

This article reports research on self-regulatory aspects (i.e., goal-setting, self-efficacy and self-evaluation) of secondary and post-secondary students with congenital motor disabilities, who performed a ball-throwing-at-a-target task. Participants were divided into four subgroups presenting distinct combinations of motor and cognitive abilities (i.e., normal cognitive development and mild physical disabilities, normal cognitive development and severe physical disabilities, mild-to-moderate intellectual disability and mild physical disabilities, and mild-to-moderate intellectual disability and severe physical disabilities). Results showed that students presenting mild motor disabilities exhibited a positive self-concept and self-regulation profile, irrespective of their cognitive functioning. Students with considerable motor disabilities, but without cognitive challenges, presented a negative, though realistic self-concept and self-regulation profile. Finally, students with considerable motor disabilities and mild-to-moderate cognitive disabilities showed a positive, though unrealistic, self-regulation profile. The nature of the diverse relationship of motor and cognitive (dis)abilities to specific self-regulatory aspects are discussed, and important instructional implications are mentioned.     

Sympathetic skin response in chronic renal failure and correlation with sensorimotor neuropathy

Twenty subjects suffering from chronic renal failure and undergoing continual treatment by haemodialysis were examined, and the following values assessed: maximum conduction velocity of the sensory and motor fibres of the common peroneal nerve, the relative electromyographic parameters, and the sympathetic skin response at the level of the foot. The results obtained have shown that autonomic neuropathy involving the sympathetic sudomotor is less frequent than sensorimotor neuropathy. The autonomic failures are scanty in the mild forms of sensorimotor neuropathy, with minor latency in the onset of uremia.     

Comparison of electrophysiologic and autonomic tests in sensory diabetic neuropathy

We examined autonomic function in 46 patients with symmetric sensory non-insulin dependent diabetic neuropathy without autonomic symptoms and 31 age-matched control patients using the composite autonomic scoring scale (CASS) and electrophysiologic examination. The patients were divided into three groups by subjective severity of pain or numbness; 17 had slight pain or numbness, 15 had mild pain or numbness, and 14 had moderate pain or numbness. The patients in the moderate group had the following: a mild reduction in systolic and mean blood pressure (BP) within 1 minute of head-up tilt and a partial recovery after 5 minutes; an excessive fall in early phase II (IIe), an absence of late phase II (III) and reduced phase IV beat-to-beat BP responses to Valsalva maneuver (VM); a poor heart rate response to deep breathing; a reduced quantitative sudomotor axon reflex test (QSART) response in distal leg and foot; the highest CASS among the 3 groups; and reduced conduction velocity and amplitude in post-tibial nerve and sural nerve. The mild group had a mild reduction in BP during phase IIe and an absent phase III but normal phase IV overshoot during VM; a reduced QSART in the foot; a CASS between the moderate and slight groups; and reduced conduction velocity and amplitude in post-tibial nerve and reduced amplitude in sural nerve. The slight pain group had no abnormalities except for mild cardiovagal dysfunction. CASS gathered from all cases had a significant correlation with amplitude of sural nerve. These results suggest that the patients with symmetric sensory diabetic neuropathy may also have autonomic dysfunction, although they did not have any obvious autonomic symptoms, and that abnormalities in autonomic function parallel changes in somatic function in peripheral nerve. The CASS may be a sensitive tool, similar to the neurophysiologic test, for assessing diabetic neuropathy.     

Sympathetic skin response in diabetic peripheral neuropathy

There were 72 diabetic patients with clinical evidence of sensorimotor peripheral neuropathy investigated to determine the sensitivity of the sympathetic skin response test (SSR) for detection of sudomotor dysfunction and its correlation with other autonomic function tests, autonomic symptoms, and degree of peripheral neuropathy. Nerve conduction velocities (NCV) were abnormal in all patients, SSR was absent in 60 of 72 patients (83%), Valsalva test was abnormal in 32 of 67 patients (48%) who had the test, and 6 of 72 (9%) had orthostatic hypotension. Statistically significant correlation was found between the Valsalva test abnormality, the degree of peripheral neuropathy, and the SSR in our patients. All patients with orthostatic hypotension had an absent SSR and an abnormal Valsalva test. Most patients had one or more autonomic signs or symptoms. Orthostatic dizziness only correlated with SSR, however. These results suggest that sudomotor activity detected by sympathetic skin response is a valuable test for investigation of dysautonomia in diabetic peripheral neuropathy.     

Sympathetic skin response and cardiovascular autonomic function tests in Parkinson's disease and multiple system atrophy with autonomic failure.

The relationship between sympathetic skin response (SSR) and cardiovascular autonomic function tests (CVTs) was investigated in 15 patients with idiopathic Parkinson's disease (PD), 15 patients with clinical evidence of multiple system atrophy (MSA) with autonomic failure, and in 15 healthy control subjects. SSR was elicited by electrical stimulation of the right and left median nerves and simultaneously recorded on the palms of both hands. CVTs included the following sympathetic and parasympathetic tests: orthostatism, head-up tilt, cold pressor test, deep breathing, Valsalva maneuver, and hyperventilation. The SSR was normal in all patients with PD and control subjects but was abnormal or absent in all patients with MSA. For patients with MSA, SSR latency was significantly longer and amplitude was significantly smaller than that of patients with PD and control subjects. For patients with PD, SSR did not differ from that of control subjects. In these patients, SSR latency was significantly longer and SSR amplitude was smaller when the side with more marked motor symptoms was stimulated, both ipsilaterally and contralaterally to the side of stimulation. A statistically significant difference in SSR latencies and amplitudes was found between patients with PD and control subjects only when motor asymmetries were considered. CVTs showed severe sympathetic and parasympathetic hypofunction in patients with MSA, but not in patients with PD or control subjects. No correlation was found between SSR and CVTs that assess sympathetic function in patients and control subjects. SSR is indicated as an additional test for the evaluation of sympathetic degeneration in patients with MSA.     

Sympathetic skin response in patients with myasthenia gravis★ A comparative analysis

BACKGROUND: The examination of sympathetic skin response is an important index for assessing the autonomic nerve function, and patients with myasthenia gravis are always accompanied by dysautonomia. Therefore, it will be important to know whether sympathetic skin response can be used as the index for the clinical evaluation of myasthenia gravis. OBJECTIVE: To investigate the diagnostic value of sympathetic skin response in the damage of autonomic nerve function of patients with myasthenia gravis. DESIGN: A case-controlled comparative observation. SETTING: Department of Neurology and Room of Nerve Electromyogram, the Affiliated Hospital of North Sichuan Medical College. PARTICIPANTS: Thirty outpatients or inpatients with myasthenia gravis were selected from the Department of Neurology, the Affiliated Hospital of North Sichuan Medical College from May 2006 to May 2007, including 9 males and 21 females, aged 8–72 years with a mean age of (28±5) years old. They were all accorded with the diagnostic standards of myasthenia gravis, accompanied by different severity of autonomic nerve symptoms, including poor skin nutrition, sweating of hands and feet, pyknocardia, persistent hypotension, abdominal pain, constipation, etc. They all had not taken any drug affecting the autonomic nerve function before the examination. Informed consents were obtained from all the patients. Meanwhile, 30 healthy physical examinees were enrolled as the normal control group, including 10 males and 20 females, aged 10–75 years with a mean age of (31±5) years old. Approval was obtained from the hospital ethic committee. METHODS: After admission, the patients were examined with sympathetic skin response using DANTEC keypoint 2.0 electromyography evoked potential apparatus (Danmark). The changes of the latency and wave amplitude of sympathetic skin response were observed. The subjects in the normal control group were examined with the same methods at physical examination. Abnormality was judged by the disappearance of wave form, latency longer than that in the normal control group by Mean±2.5SD, or wave amplitude lower than the average value in the normal control group by 50%. MAIN OUTCOME MEASURES: The results of the latency and wave amplitude of sympathetic skin response were compared between the patients with myasthenia gravis and normal controls. RESULTS: All the 30 patients with myasthenia gravis and 30 healthy physical examinees were involved in the final analysis of results. There were no significant differences between the left and right upper and lower limbs in both the myasthenia gravis group and normal control group (P > 0.05). In the myasthenia gravis group, the abnormal rate of sympathetic skin response was 37% (11/30), the latency was prolonged and the wave amplitude was decreased as compared with those in the normal control group, and there were significant differences (P < 0.01). CONCLUSION: Sympathetic skin response can be used as an electrophysiological index for judging the damages of autonomic nerve function in patients with myasthenia gravis.     

Cardiovascular autonomic function and sympathetic skin response in chronic inflammatory demyelinating polyradiculoneuropathy

Quantitative cardiovascular autonomic function tests (AFTs) and sympathetic skin response (SSR) were performed in 12 patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Parasympathetic autonomic function was examined by Valsalva ratio and R-R interval variation during rest and deep breathing. Sympathetic autonomic function was evaluated by blood pressure responses to sustained handgrip and active standing. Using quantitative AFTs, subclinical autonomic dysfunction was demonstrated in three (25%) patients. Abnormal SSR was seen in six (50%) patients. Thus, mild autonomic dysfunction is present in many CIDP patients. The autonomic abnormalities involve parasympathetic or sympathetic components; in the sympathetic nervous system, both vasomotor and sudomotor fibers may be involved.     

Videofluorographic study of swallowing in patients with severe motor and intellectual disabilities--I. Recurrent pulmonary infections

We studied swallowing movements of 8 patients with severe motor and intellectual disabilities and recurrent pulmonary infectious diseases. All the patients were orally fed with no problems, but had frequent episodes of pyrexia, mostly due to pulmonary infections. Videofluorographic studies revealed severe impairments in the transitional and pharyngeal phases. The patients aspirated liquids, most frequently during swallowing. Prior to swallowing pooling of liquid barium was frequently observed in the hypopharynx, and that of purees in the pharynx after swallowing. The delay of cricopharyngeal relaxation was also frequently observed. Based on the videofluorographic findings, we made some efforts to provide patients with evident or latent aspiration with better management: changes in food textures and posture during drinking and eating. These efforts significantly reduced the frequency of pyrexic episodes. Since latent aspiration is not uncommon among patients with severe motor and intellectual disabilities, swallowing disturbance should be evaluated in detail by videofluorographic examination to improve QOL.