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PubMed1995

Auditory phenotyping of heterozygous sound-responsive (+/dn) and deafness (dn/dn) mice.

Accurate phenotyping of offspring from backcross matings between F1 heterozygous sound-responsive and deafness mice is an important step for the identification of the deafness (dn) gene (Keats et al., 1995). Here, we report the results of auditory phenotyping of backcross offspring who are either sound-responsive or deaf by recording the Preyer reflex elicited by hand clap, auditory brainstem responses (ABRs), and 2f1-f2 distortion product otoacoustic emissions (DPOEs). Our results show that the Preyer reflex observation alone is inadequate for auditory phenotyping; a more precise test such as a click-evoked ABR recording is needed for auditory phenotyping. DPOE recording results in identification of sound-responsive or deaf mice as accurately as the click-evoked ABR testing. In addition, because the DPOE amplitude function is in good agreement with the ABR threshold in frequency sensitivity and specificity for stimulus frequencies between 1 and 16 kHz, the DPOE recording can be considered as an alternate test for auditory phenotyping.

Acoustic Stimulation↗
PubMed1984

Joseph Babinski: the phenomenon of the toes.

Joseph Babinski first described the plantar cutaneous reflex that bears his name in two papers in 1896 and 1898. He linked the sign, which he termed "the phenomenon of the toes," to disturbances of the pyramidal tract. In the nearly 90 years that have elapsed since the original description, little significant elaboration has been made upon Babinski's initial works. Although the reflex is best known in conjunction with organic disease involving structural injury to the corticospinal tract, it may be present in a number of toxic and metabolic disturbances. These are diverse, and no satisfactory explanation exists to explain the presence of the reflex in such clinical entities. In some instances the reflex reverts to normal following improvement of the underlying condition.

France↗
PubMedDate not supplied

Familial congenital facial diplegia: electrophysiologic and genetic studies.

A 13-year-old boy with autosomal-dominant congenital facial diplegia was evaluated by electrophysiologic and genetic investigations. Thirteen members of his family were affected over 4 generations. The electrophysiologic studies revealed blink reflex abnormalities. Both R1 and R2 responses were prolonged on the left side after ipsilateral stimulation, while R2 was also delayed by contralateral stimulation. Ipsilateral R1 and R2 were of normal latencies when the right side was stimulated. A third ipsilateral response at 63 msec of latency could be obtained when stimulating the left side. These findings suggest functional damage to the brainstem. Further support for this interpretation was provided by the prolonged time between waves I and V, bilaterally, documented by study of brainstem auditory evoked potentials.

Adolescent↗
PubMedDate not supplied

Hyperekplexia and sudden neonatal death.

Fifteen patients with hyperekplexia were identified in 3 families; diagnostic clinical characteristics were defined which allowed for early recognition and treatment. During the first 24 hours of life, spontaneous apnea and sluggish feeding effort were observed. After the first 24 hours, surviving infants exhibited the hyperekplexic startle response to nose tapping. This startle response is characterized by sudden muscular rigidity, feeding-induced oropharyngeal incoordination, and poor air exchange often with apnea, persisting with repetitive nose tapping. Untreated infants experienced recurring apnea until 1 year of age. Three of 15 patients died unexpectedly during the neonatal period. Patients treated with clonazepam (0.1-0.2 mg/kg/day) had no serious apneic episodes and startle reflexes were diminished. The pathophysiologic mechanism for hyperekplexia remains obscure. Electroencephalographic studies were consistently normal. The response to and tolerance of benzodiazepines are striking in newborns and infants and suggest an aberrant central nervous system reflex as the etiology; therefore, hyperekplexia should be considered in the evaluation of neonates and infants with apnea, aspiration pneumonia, episodic muscular rigidity, hyperexcitability, and near-miss sudden infant death syndrome. The need for immediate monitoring of at-risk infants, observation for signs of hyperekplexia, and initiation of clonazepam in these patients are emphasized. Hyperekplexic startle response to nose tapping should be included in the routine examination of all newborns.

Apnea↗
PubMed1995

Complete heart block in nonfamilial hyperekplexia.

An infant with nonfamilial hyperekplexia had multiple episodes of tonic spasms that mimicked tonic seizures. They were accompanied by complete heart block and apnea. These episodes did not correlate with electroencephalographic epileptiform changes and were partially responsive to clonazepam, valproic acid, and cardiac pacemaker. Sudden death in hyperekplexia may be related to complete heart block and apnea during seizurelike episodes.

Apnea↗
PubMedDate not supplied

The effects of prenatal cocaine use on neonatal neurobehavioral status.

The effect of prenatal cocaine use on neonatal behavior was examined, using the Brazelton Neonatal Behavioral Assessment Scale (BNBAS), in a prospective study of women attending a prenatal clinic. Women were interviewed at the end of each trimester. Term infants were assessed with the BNBAS at day 2 (N = 165) (mean = 35.6 h) and at day 3 (N = 108) (mean = 60.1 h). Women averaged 25 years of age with 12 years of education; 48% were African-American and 20% were married. Women who used cocaine were more likely to use tobacco, alcohol, and marijuana. Regression analyses, with the Lester et al. (22) clusters as outcomes, were used to control for covariates of cocaine use such as other substance use and sociodemographic characteristics. On day 2, first, second, and third trimester cocaine/crack use were significantly related to poorer autonomic stability, second and third trimester use were related to poorer motor maturity and tone, and first and second trimester use were associated with an increased number of abnormal reflexes. These relationships were not present on day 3. These results may be transient expressions of the effect of prenatal cocaine exposure on central nervous system maturation.

Adult↗
PubMed1995

[Hyperexplexia].

Hyperexplexia is a disease of neonatal onset characterized by an exaggerated startle reflex. Early diagnosis is important to rule out epilepsy. Clinical findings are mainly hypertony and generalized startle reflex which is exaggerated by tiredness and some exogenous stimuli. Electroencephalogram is normal. The expression of the disease is variable including minor forms that may be unnoticed and major forms with arthrogryposis-like symptoms, orthopedic complications, false passages, apnea and even sudden infant death (SID). The evolution is generally benign and symptoms disappear within 2 or 3 years. A neuromotor retardation is often present, without intellectual deficit. In severe forms, the risk of SID requires a multidisciplinary follow-up including monitoring and treatment with clonazepam. A low GABA level in cerebrospinal fluid has been reported. Present etiological hypotheses include neuromediator and/or receptor dysfunction.

Humans↗
PubMed2005

Validity and limitation of manual rotational test to detect impaired visual-vestibular interaction due to cerebellar disorders.

The aim of this study was to investigate validity and limitation of the novel infrared system to record and analyze horizontal visual-vestibular interaction using whole-body rotation rapidly and conveniently in the routine vestibular clinic. We examined 11 patients with cerebellar dysequilibrium and 25 patients with peripheral dysequilibrium for vestibulo-ocular reflex in darkness (DVOR), visually-enhanced vestibulo-ocular reflex (VEVOR), and fixation suppression of vestibulo-ocular reflex (FSVOR), and compared the results with those of examination for head-fixed smooth pursuit and fixation suppression during caloric stimulation. The manual rotation stimuli were 0.5-0.75 Hz in frequency and 60-90 degrees /s in maximal angular velocity. Gain of vestibulo-ocular reflex in darkness was not significantly correlated with maximal slow phase velocity (MSPV) of caloric-induced nystagmus at that stimulus condition either in patients with peripheral dysequilibrium or in those with cerebellar dysequilibrium. An index for fixation suppression of vestibulo-ocular reflex during rotation stimulus was significantly lower in patients with cerebellar dysequilibrium than in normal control subjects and those with peripheral dysequilibrium. On the other hand, there was no significant difference among the two disease groups and the normal control group in gain of visually-enhanced vestibulo-ocular reflex. In about a half of patients with cerebellar dysequilibrium, measured smooth pursuit gain was lower than estimated smooth pursuit gain calculated based on a simple superposition theory of vestibulo-ocular reflex and smooth pursuit. Testing fixation suppression using the present system is an unusually convenient tool for detection of cerebellar dysequilibrium.

Cerebellum↗
PubMed2004

The specificity of the CDC-1994 criteria for chronic fatigue syndrome: comparison of health status in three groups of patients who fulfill the criteria.

PURPOSE: The Centers for Disease Control (CDC)-1994 definition of chronic fatigue syndrome (CFS) is very broad, and there have been suggestions that it lacks specificity. To test this, we have compared three groups of patients, all of whom fulfill the criteria but self-report different etiologies. METHODS: Patients with self-reported symptoms which developed sporadically (sCFS, n=48); after Gulf War service (GW, n=24); and following exposure to organophosphate insecticides (OP, n=25) underwent a clinical examination, completed the MOS SF-36 quality of life and Hospital Anxiety and Depression scales, and were assessed for major and minor criteria for CDC-1994 CFS. RESULTS: Significant differences in simple clinical measures and outcome measures were observed between groups. The GW group had significantly more severe physical symptoms-fatigue, muscle and multi-joint pain-than OP or sCFS, and the sCFS group was significantly less impaired than the other two groups in terms of role emotional and mental health. In all three groups, a majority of patients exhibited muscle weakness in the lower limbs, and significant numbers of patients had absent or abnormal reflexes. CONCLUSIONS: Differences in simple, easily performed clinical outcome measurements can be observed between groups of patients, all of whom fulfill the CDC-1994 criteria for CFS. It is likely that their response to treatment may also vary. The specificity of the CFS case definition should be improved to define more homogeneous groups of patients for the purposes of treatment and research.

Adult↗
PubMed2006

Two Japanese families with hyperekplexia who have a Arg271Gln mutation in the glycine receptor alpha 1 subunit gene.

We report two Japanese patients from two families with hyperekplexia who have a Arg271Gln mutation in the glycine receptor alpha 1 subunit gene. The clinical course of both patients was typical for hyperekplexia, characterized by neonatal hypertonia and exaggerated startle response, and which improved gradually with age. One was associated with umbilical hernia and hip dislocation, diagnosed at 11 months, while the other was diagnosed at 1 month. Both showed positive head retraction reflex. Four Japanese families have been reported as having hyperekplexia including our cases, of which three have shown the same missense Arg271Gln mutation, most frequently found in patients from Northern Europe and the United States.

Child, Preschool↗
PubMed2004

Tendon reflexes for predicting movement recovery after acute spinal cord injury in humans.

OBJECTIVE: Use the tendon reflex to examine spinal cord excitability after acute spinal cord injury (SCI), relating excitability findings to prognosis. METHODS: We conducted repeated measures of reflex responses to mechanical taps at the patellar and Achilles tendons of the lower limbs, and the wrist flexor tendons of the upper limbs in persons with acute SCI, beginning as early as the day of injury. The single largest EMG response (peak-to-peak) for each site was recorded. Subjects were compared based on level of injury and final neurologic status of lower limb motor function (i.e. absence of any voluntary recruitment in a lower limb muscle: motor-complete; voluntary recruitment in 1 or more lower-limb muscles: motor-incomplete). RESULTS: We studied 229 subjects with acute SCI. Persons with injury to the cervical or thoracic spinal cord and who were (or became) motor-incomplete showed large tendon responses, even at the time of initial evaluation. In combination with larger tendon response amplitudes, the presence of the 'crossed-adductor' response to patellar tendon taps at the acute stage was highly predictive of functional motor recovery following SCI. In marked contrast, tendon responses were small (e.g. < 0.1 mV) or absent in persons with acute, motor-complete injury (and which remained motor-complete), and the crossed-adductor response was never seen. Reflex amplitudes and the incidence of the crossed-adductor response increased somewhat over time in persons with motor-complete SCI, but did not approach the values seen in motor-incomplete subjects. CONCLUSIONS: Taken together, tendon response amplitude and reflex spread were sensitive and specific indicators of preserved supraspinal control over lower limb musculature in subjects with acute SCI. A simple algorithm using these outcome measures predicted a 'motor-complete' status with 100% accuracy, and a motor-incomplete status with accuracy exceeding 91%.

Achilles Tendon↗
PubMed2005

Are migraineurs hypersensitive? A test of the stimulus processing disorder hypothesis.

The concept of hypersensitivity in migraineurs was advanced mainly on the basis of studies on information processing in which increased amplitudes and reduced habituation in cortical evoked and event related potentials were found in migraine sufferers. The present investigation examined whether migraineurs exhibit hypersensitivity within three different experimental paradigms and various non electrocortical response parameters. Samples of 24 migraine, 19 tension-type headache sufferers, and 24 normal controls were compared regarding their subjective estimation of intensity and discomfort due to visual and acoustical stimuli. Subjects also participated in an experiment using the eyeblink startle response paradigm. In a last experimental task the Stroop test was applied. The trait variables emotionality, arousal, and extraversion were also measured. None of the experimental tasks revealed the predicted hypersensitivity of migraineurs in relation to the control samples. The series of experiments was conducted a second time with half of the participants in order to replicate the findings. The conclusions remained the same. The results of earlier studies on cortical processing can not be interpreted as demonstrating general hypersensitivity in the sense of a dispositional trait in migraine afflicted individuals irrespective of the involved response system.

Acoustic Stimulation↗
PubMed2006

Acute muscle inflammation enhances the monosynaptic reflexes and c-fos expression in the feline spinal cord.

The aim of this research was to study the changes of the motor reflex activity (monosynaptic reflex (MSR) of the flexor and extensor muscles) and Fos immunoreactivity in lumbo-sacral spinal cord after acute induced myositis of m. gastrocnemius-soleus (GS). The experiments were carried out on ischaemic decerebrated, spinalized in C1 cats. After infiltration of the GS muscle with carrageenan (2%) MSRs of flexors and extensors showed a significant increase in amplitude +127+/-24.5% and +155+/-28.5%, respectively, p<0.05. The exposed effect was initiated within 30 min and achieved a maximum 2.8h after the intramuscular injections of carrageenan. After analysis of dynamics of the MSRs, animals were perfused and c-fos expression in the spinal segments L6-S1 was evaluated. In comparison to sham-operated animals, the number of Fos-immunoreactive (Fos-ir) cells was noticeably increased in the lumbar cord of cats with carrageenan-induced myositis. The labeled cells were concentrated in the ipsilateral laminae I/II, neck of the dorsal horn (V/VI) and intermediate zone (VII), however, clear predominance of their concentration was found in the deep laminae. The effect of muscle inflammation was also expressed as a significant decline in the number of NADPH-d-reactive cells (p<0.05) in ipsilateral laminae I/II of L6/L7. The results show that the input from acutely inflamed muscles may induce an increase of the reflex responsiveness of flexors and extensors which is not mediated via the gamma-spindle-loop and which coincides with a significant increase in c-fos expression in the deep laminae of the lumbar spinal cord.

Action Potentials↗
PubMed2005

Reversal of inappropriate peripheral vascular responses in hypertrophic cardiomyopathy.

OBJECTIVES: We assessed the frequency of abnormal forearm vasodilator responses during lower body negative pressure (LBNP) in 21 non-obstructive hypertrophic cardiomyopathy (HCM) patients (31 +/- 8 [20 to 43] years) with abnormal blood pressure response (ABPR) to exercise and the effects of three drugs used to treat vasovagal syncope (propranolol, clonidine, and paroxetine) in a double-blind crossover study. BACKGROUND: Some HCM patients have an ABPR to exercise, which may be due to paradoxical peripheral vasodilatation. A similar proportion has paradoxical forearm vasodilatation during central volume unloading using LBNP. These abnormal reflexes may be caused by left ventricular mechanoreceptor activation. Similar mechanisms may also contribute to some cases of vasovagal syncope. METHODS: Blood pressure changes were assessed during exercise, and forearm vascular responses and baroreceptor sensitivity were assessed during LBNP using plethysmography. RESULTS: Nine (43%) patients (group A) had paradoxical vasodilator responses (forearm vascular resistance [FVR] fell by 7.5 +/- 4.6 U), and 12 (57%) patients (group B) had normal vasoconstrictor responses during LBNP (FVR increased by 7.7 +/- 4.9 U). Paroxetine augmented systolic blood pressure (SBP) during exercise in group A (21 +/- 6 mm Hg vs. 14 +/- 11 mm Hg at baseline, p = 0.02); no effect was detected in group B. Paroxetine reversed paradoxical vascular responses during LBNP in seven (78%) patients from group A. Propranolol and clonidine had no significant effect on SBP during exercise but reversed paradoxical vascular responses in some patients from group A (n = 5 and n = 3). CONCLUSIONS: Paradoxical vasodilatation during LBNP occurs in 40% of patients with ABPR during exercise and is reversed by propranolol, clonidine, and paroxetine. Paroxetine also improved SBP response to exercise.

Adrenergic beta-Antagonists↗
PubMed2004

The Impact of Event Scale--Revised: evaluation of the subscales and correlations to psychophysiological startle response patterns in survivors of a life-threatening cardiac event: an analysis of 129 patients with an implanted cardioverter defibrillator.

BACKGROUND: The aim of the present study was to examine the reliability and validity of the Impact of Event Scale-Revised (IES-R) with special emphasis on the evaluation of the hyperarousal subscale against a standardized psychophysiological measurement. METHODS: A total of 129 survivors of a life-threatening cardiac event underwent a psychodiagnostic evaluation and a psychophysiological acoustic startle reflex (ASR) paradigm. The ASR assessed the magnitude and habituation of electromyogram (EMG) and skin conductance responses (SCR) in response to the delivery of 15 acoustic startle trials. Pearson correlation and factor analysis was used to measure reliability and construct validity. The hyperarousal subscale was validated against the ASR in terms of sensitivity and specificity mainly using receiver operating characteristic (ROC) curve analysis. RESULTS: A high reliability was found for the intrusion and avoidance subscale (alpha>0.8); however, the hyperarousal subscale showed a weaker reliability (alpha=0.66). No avoidance item, one intrusion item but four hyperarousal items revealed higher correlations to another than its assigned subscale. The hyperarousal subscale was not able to discriminate sufficiently between patients with and without exaggerated startle reactions as indicated by ROC curves running near the diagonal line. LIMITATIONS: The scores in all three subscales are lower compared to subjects traumatized by non-cardiac events. CONCLUSIONS: Reliability and construct validity for the intrusion and avoidance subscale proved to be high but was only sufficient for the hyperarousal subscale. Moreover, the criterion validity of the hyperarousal subscale regarding psychophysiological measurements is arguable and indicates further investigations in this area.

Acoustic Stimulation↗