Gait Apraxia Research Articles

Síndrome de Rett: estudo retrospectivo e prospectivo de 28 pacientes

From November 1982 to May 1999, 28 children with Rett syndrome were followed-up for a medium period of 6 years and 2 months. Regression of developmental milestones started at the age between 5 and 20 months. Nineteen cases of typical Rett syndrome had uneventful pre and perinatal periods, loss of previously acquired purposeful hand skills, mental and motor regression and developed hand stereotypies; sixteen had head growth deceleration and 12 gait apraxia. Nine patients were atypical cases, 2 formes frustres, 2 congenital, 3 with early seizure onset, 1 preserved speech and 1 male. Epilepsy was present in 21 patients, predominantly partial seizures and the drug of choice was carbamazepine (15 patients). In the initial evaluation most patients were distributed on Stages II and III and on follow-up on Stages III and IV. Three children died.

Neuropsychiatric Significance of Subcortical Hyperintensity

Neuropsychiatric Significance of Subcortical Hyperintensity

Psychiatric disorders associated with Alzheimer's disease.

Alzheimer's disease is a cortical dementia with an insidious onset and relatively slow progression. In the early stages and throughout most of the disease, memory impairment is the primary problem. Any manifestation of psychiatric symptoms is generally secondary to the amnesia, the paramount symptom of early Alzheimer's disease. The psychiatric symptoms emanate from the memory impairment. Therefore, testing memory is essential. The first stage of Alzheimer's disease commonly is marked by anxiety and depression secondary to memory impairment, and delusions. In the second stage, delusions often become more bizarre. Impairment of visuospatial memory, improper advances, and obscene language begin to replace disinhibited behavior, often to the point of violence directed at others. Increasing agitation requires restraints. In the third and final stage, screaming, banging, and cursing are common features. Verbal and behavioral perseverations are very common. Fecal and urinary incontinence and gait apraxia are other features of the final stage, again with restraints often necessary. In addition to outlining the progression of Alzheimer's disease through these stages, this article summarizes the available pharmacotherapy for the various psychiatric manifestations of the illness prevalent at each stage.

73-Year-Old Man With Gait Disturbance and Imbalance

A 73-year·old right-handed man with a history of diabetes, hyperlipidem ia, co ronary artery disease, and asthmatic obstructive lung disease came to our institution beca use of a 2year history of gradual worseoiog of gait aod balaoce. One year previously, he had undergone coronary artery bypass grafting without perioperative complica tions. Subsequently, h is gait worsened, and his fee l felt "glued to the floor." During the 2 years before the curre nt examination, he also noticed urinary urgency, occasional incont inence, and irnpotcnce. His wife noti ced that he had had some mental slo wing and forgetfulness during the precediog 18 months. Review of systems revealed no history of tremo r. speech change, diffi culty with use of his arms, or wea kness . Five months before the current assessment, a neu rol ogist had noted parkin son ism; amantadi oe hydrochlori de and carbidopaIcvodopa were prescribed separate ly but yielded no benefi t. On initi al consultation , the patient had norm al mental status and cranial nerve func tions. Motor examina tion showed generally preserved strength, red uced aokle jerks, and flexor plantar responses bilaterally. Muscle tone was mildly spastic in the legs. Sensory examinat ion showed mild hypoe sthesia 10 pinprick in bot h hands (fingertips) and feet (up 10 the ankles); other sensory modalit ies were normal. His ga it was wide-based , and externa l anal sphincte r tone was mildly reduced . Parkinsoni an signs included shuffl ing gait, slowed walking, and postural instability.

Treatment with electromagnetic fields improves dual-task performance (Talking while walking) in multiple sclerosis

Multiple sclerosis (MS) is associated with an increased risk of falling resulting from visual disturbances, difficulties with gait and balance, apraxia of gait and peripheral neuropathy. These factors often interact synergistically to compromise the patient's gait stability. It has long been recognized that walking involves a cognitive component and that simultaneous cognitive and motor operations (dual-task) such as talking while walking may interfere with normal ambulation. Talking while walking reflects an example of a dual-task which is frequently impaired in MS patients. Impaired dual-task performance during walking may compromise the patient's gait and explain why in some circumstances, MS patients unexpectedly lose their balance and fall. Frontal lobe dysfunction, which commonly occurs in MS patients, may disrupt dual-task performance and increase the risk of falling in these patients. This report concerns a 36 old man with remitting-progressive MS with an EDSS score of 5.5 who experienced marked increase in spasticity in the legs and trunk and worsening of his gait and balance, occasionally resulting in falling, when talking while walking. His gait and balance improved dramatically after he received two successive transcranial treatments, each of 45 minutes, with AC pulsed electromagnetic fields (EMFs) of 7.5 picotesla flux density. Simultaneously, there was improvement in dual-task performance to the extent that talking while walking did not adversely affect his ambulation. In addition, neuropsychological testing revealed an almost 5-fold increase in word output on the Thurstone's Word-Fluency Test, which is sensitive to frontal lobe dysfunction. It is suggested that facilitation of dual-task performance during ambulation contributes to the overall improvement of gait and balance observed in MS patients receiving transcranial treatment with AC pulsed EMFs.

Physiotherapy for higher-level gait disorders associated with cerebral multi-infarcts

Patients with cerebral multi-infarct states (CMIS) may sometimes have severe gait impairments in the absence of obvious neurological deficits. In these higher-level gait disorders or gait apraxia, there may be prominent features of gait initiation failure, shuffling, freezing, difficulty making turns and disequilibrium. The detailed clinical features of these gaits have recently been described by Nutt, Marsden and Thompson (1993). The standard approach to these disorders is physiotherapist-administered gait re-training. The elements of such treatments, however, have not been clearly documented, nor has their relationship to the disordered gait parameters been clearly defined. This is an essential precursor to developing and evaluating rational therapies. The present paper addresses these problems by standardising the interventions currently used by physiotherapists for broadly similar disorders and combining them into an overall treatment schedule which can be used with this heterogeneous group of patients. A method is also proposed for recording this treatment. This schedule forms a modular approach to physiotherapy under three headings: (a) physiotherapy interventions for gait initiation failure and turning; (b) physiotherapy interventions to improve postural alignment and enhance balance reactions; and (c) physiotherapy interventions aimed at specific components of higher-level disordered gait in CMIS patients. This treatment schedule will clearly require evaluation in randomised controlled trials.

What Was the Reason for Joseph Haydn's Mental Decline and Gait Disturbance?

For most of his life, Joseph Haydn (1732–1809) was a healthy man, apart from a chronic nasal polyp. With increasing age, Haydn is said to have suffered from progressive forgetfulness which prevented him from composing for about the last 8 years of his life. He spent his days immobilized and inactive, suffering from frequent leg swelling, which has commonly been regarded as the reason for Haydn''s gait disturbance. Most biographers quote diffuse atherosclerosis and congestive heart failure as the diagnosis of the composer''s final illness and a reason for his death. A more sophisticated pathography, however, can be inferred from a detailed analysis of documents and sources, which leads to a diagnosis of subcortical vascular encephalopathy. This is a variant of cerebral microangiopathy with a classical triad of sequential symptoms: a dyspraxic gait disturbance (i.e. frontal gait apraxia), neuropsychological ''frontal lobe'' deficits (i.e. cognitive slowing and mnestic deficits leading to an abulic syndrome and slowly progressive dementia, and mood disorders of various degrees (i.e. depression, lability of affect, abnormal crying and laughing). All three components can be documented from Haydn''s biographies. In the classical descriptions of the composer''s contemporaries Dies, Carpani and Griesinger – despite his legs being swollen in various degrees as a symptom of congestive heart failure – there are clues for a severe dyspraxic gait disturbance contrasting with initially preserved but progressively deteriorating bimanual motor interaction, which eventually led to Haydn''s complete immobilization.

A population-based study on the association between dementia and hip fractures in 85-year olds.

The association between dementia and hip fracture was studied in a representative sample of 85-year olds (N = 485). The diagnosis of dementia was made according to the DSM-III-R. The prevalence of hip fracture was obtained by history and inspection of the hip. Bone mineral density was measured with dual photon absorptiometry of the right calcaneus. Hip fracture was associated with both Alzheimer's disease (p < 0.01) and vascular dementia (p < 0.01) in women, but not in men. Among women with dementia, the rate of hip fracture was more than twice that found in the general population (32.7% vs 13.6%). Bone density was not associated with dementia or hip fracture. Body mass index and body weight were lower in women with dementia and in women with hip fracture. The prevalence of hip fracture was also increased in subjects who used psychotropic drugs, especially tricyclic antidepressants. A logistic multiple regression analysis showed that dementia, use of antidepressants and gender independently contributed to hip fracture. The reason why subjects with dementia are at increased risk for hip fractures may be that these subjects have a defective neuromuscular regulation, gait apraxia, use more antidepressants, and have a lower body mass index. Another explanation of the association may be that surgery and anesthesia give rise to systemic hypotension that leads to cerebral hypoperfusion and ischemic and neuronal death in vulnerable brain areas, and as a consequence may lead to dementia or worsen the symptoms in subjects already affected by dementia.

Historical review of research on functions of basal ganglia.

Basal ganglia have been known as a motor center because their lesions cause motor disturbances in involuntary movements such as chorea, ballism or akinesia in parkinsonism. The different types of involuntary movements are closely related to the underlying muscle tone. Mechanisms of bradykinesia or akinesia have been elaborated in physiological studies on Parkinson's disease and the significance of sensorimotor processing or attention arousal has been disclosed as a relevant factor of bradykinesia. Analysis of short-stepped gait, frozen gait or apraxia of gait, has claimed the frontal lobe and the striatum to be a locomotion center especially in humans (bipedal locomotion). Cognitive function of the basal ganglia has attracted attention particularly in the disorder of Parkinson's disease. Subcortical dementia, difficulty in formation or changes of concepts are encountered in advanced stages of Parkinson's disease. Whether cognitive functions in the frontostriatal system are primarily related to the motor function of the brain is an issue for future study.

Apraxia of Gait or Higher Level Gait Disorders: Review and Description of Two Cases of Progressive Gait Disturbance Due to Frontal Lobe Degeneration

Apraxia of Gait or Higher Level Gait Disorders: Review and Description of Two Cases of Progressive Gait Disturbance Due to Frontal Lobe Degeneration

Very‐late‐onset adrenoleukodystrophy

We report the clinical history, neuroradiology, and autopsy findings in a patient with very late onset, at age 57, of adrenoleukodystrophy (ALD) presenting with dementia, hemianopia, and gait apraxia. Open brain biopsy, elevated plasma very-long-chain fatty acids, and autopsy confirmed the diagnosis of ALD. Demyelinative lesions were most extensive at the site of a recent cerebral contusion. CNS trauma may have precipitated or accelerated demyelination in this patient carrying the ALD gene.

Marked cerebrospinal fluid void: indicator of successful shunt in patients with suspected normal-pressure hydrocephalus.

The authors blindly reviewed the charts of 20 patients with normal-pressure hydrocephalus (a disease of unknown cause characterized radiologically as chronic communicating hydrocephalus and clinically by gait apraxia, dementia, and incontinence) who had undergone creation of a ventriculoperitoneal shunt. The initial clinical response to surgery was graded excellent, good, fair, or poor; 5-year follow-up was available in 55% of cases. The magnetic resonance (MR) images obtained in these patients were also blindly reviewed for the magnitude of cerebrospinal fluid (CSF) flow void (graded on the basis of extent rather than degree of signal loss) in the cerebral aqueduct. A significant (P less than .003) correlation existed between good or excellent response to surgery and an increased CSF flow void. The presence of associated deep white matter infarction on MR images did not correlate with a poor response to surgery. On the basis of these findings, it is suggested that patients who fulfill the clinical criteria of NPH and have an increased CSF flow void undergo creation of a shunt.

Effects of treatment on long‐term survivors with malignant astrocytomas

We reviewed the records of 160 consecutive patients with glioblastoma and anaplastic astrocytoma to evaluate the long-term consequences of radiation therapy and chemotherapy. We defined long-term survivors as those patients with glioblastoma or anaplastic astrocytoma who lived at least 100% longer than median survival of historical controls, for example, 2 years for patients with glioblastoma and 4 years for patients with anaplastic astrocytoma. There were 9 (5.6%) long-term survivors. Three (30%) became demented and died without evidence of tumor recurrence. One, after survival of 10 years, died of tumor recurrence. Of the remaining survivors, 2 (22%) have significantly impaired short-term memory function and other neurological deficits such as gait apraxia. Three (30%) can function independently. It is likely but cannot be proved that it is radiotherapy and not chemotherapy that is the causal factor of this dismal therapeutic outcome. Our study suggests restraint in the use of radiotherapy for patients with brain tumors that have more favorable prognoses than glioblastomas and anaplastic astrocytomas, such as low-grade astrocytomas and oligodendrogliomas.

Pervasive disintegrative disorder: are Rett syndrome and Heller dementia infantilis subtypes?

Children with developmental regression and emerging symptoms of autism have been given a variety of classifications. The authors compare two boys with Heller dementia with six girls with Rett syndrome. They all differed from children with classic autism in that they had normal prenatal and perinatal periods, followed by marked developmental regression, after which they acquired few or no skills. The boys differed from the girls in terms of estimated prevalence, age at onset, stereotypic breathing patterns, midline hand stereotypies, hand and gait apraxia and speech development. It is suggested that these children should be distinguished from those with classic autism, and should be classified as 'pervasive disintegrative disorder, Heller type' and 'pervasive disintegrative disorder, Rett type'.

Risk factors for the syndrome of ventricular enlargement with gait apraxia (idiopathic normal pressure hydrocephalus): a case-control study.

A case-control study was performed to verify the association between the risk factors for cerebrovascular disease and the syndrome of ventricular enlargement with gait apraxia (VEGAS). This syndrome was defined on the basis of clinical and CT criteria alone; however, it may be representative of patients with idiopathic normal pressure hydrocephalus in whom gait disturbance is the initial symptom. Seventeen patients were matched for age and sex with one hospitalised and two general population controls. Among the risk factors considered we found a significant statistical association between VEGAS and hypertension (odds ratio = 3.14; p = 0.032), ischaemic heart disease (odds ratio = 4.20; p = 0.013), ECG ischaemic changes (odds ratio = 3.67; p = 0.029), low HDL-cholesterol levels (odds ratio = 3.75; p = 0.028) and diabetes (odds ratio = 6.00; p = 0.018). Our findings indicate that risk factors for cerebrovascular disease may play a role in the development of VEGAS.

L-threo-3,4-dihydroxyphenylserine treatment for gait apraxia in parkinsonian patients.

L-threo-3,4-dihydroxyphenylserine (L-DOPS) was administered to six parkinsonian patients for the treatment of gait related akinesia which was refractile to L-DOPA treatment. One responded with marked improvement and one with only mild improvement. Although number of patients who respond markedly to this noradrenaline precursor, L-DOPS, is limited, L-DOPS was felt to be the most effective treatment modality for L-DOPA refractile gait related akinesia and L-DOPA related orthostatic hypotension.

Diagnostic criteria for rett syndrome

Diagnostic criteria for Rett syndrome (RS) were developed by representatives of the International Rett Syndrome Association and the Centers for Disease Control for use in future clinical and epidemiological studies. Necessary criteria are: normal prenatal and perinatal period; normal psychomotor development through the first 6 months of life; normal head circumference at birth, with subsequent deceleration of head growth; loss of purposeful hand skills; severely impaired expressive and receptive language; apparent severe mental retardation; and gait apraxia and truncal apraxia/ataxia. Supportive criteria include breathing dysfunction, seizures, spasticity, scoliosis, and growth retardation. The diagnosis of RS is considered tentative until 2 to 5 years of age. The differential diagnosis includes other disorders associated with mental retardation, cerebral palsy, and seizure disorders. These diagnostic criteria for RS should foster reliable communication among investigators and enhance the epidemiological and clinical research of this important disorder.

RETT SYNDROME: ADDITIONAL FINDINGS FROM 7 CASES

This paper summarizes the clinical findings of 7 girls diagnosed in 1985-86 as having Rett syndrome. Ages ranged from 3.5 to 25 years. Abnormalities of gestation were noted: Neonatal feeding problems (3/7) and positional deformities (3/7)[including hip suppluxation (1), metatarsus adduction (1), “windswept feet” (1)] were identified. Postnatal growth abnormalities included: 7/7 head growth deceleration, 3/7 microcephalic, 7/7 statural growth deceleration, 6/7 short stature. In 6/7 girls, developmental delays were noted prior to true psychomotor regression. In only one girl was there clear documentation of normal development followed by marked deterioration. Age at onset of delays ranged from 6-12 months, with psychomotor regression noted from 10-34 months. Typical hand stereotypy started between 2-3 years in all. Other findings: 6/7 trunk ataxia, 1/7 ambulatory (with gait apraxia), 6/7 seizures, 5/7 strabismus, 4/7 scoliosis, 6/7 had irritability and/or self-injury with music or motion helpful in 2 girls. These gestational abnormalities, neonatal findings and early psychomotor delays prior to regression are important additional phenotypic findings. Until a reliable genetic or biochemical marker is available, the diagnosis of this syndrome rests on the recognizable neurodevelopmental pheno type.

Rett syndrome at an institution for the developmentally disabled

Rett syndrome (RS) is a condition apparently limited to females characterized by normal early development followed by the abrupt loss of acquired function and beginning autistic behavior in late infancy. Manifestations in RS include decelerating head growth, unusual "hand-writing" movements, gait apraxia, neuromuscular tone disturbance, and seizures. No biochemical, hematologic, cytologic, or cytogenetic procedures have been shown to confirm the diagnosis of RS. With the exception of one family with 2 affected half-sisters, all cases have been sporadic. Six profoundly retarded residents of Central Wisconsin Center have manifestations of RS. Three are microcephalic and 3 have head circumferences at or below the 10th centile. All have seizures or abnormal EEG findings and all were ascertained on the basis of characteristic hand movements. No case of precocious puberty was observed. Two patients had severe scoliosis which was surgically treated. Detailed neuropathologic examination should be sought for every case of RS. The development of clearly defined minimal diagnostic criteria and the establishment of an international registry are desirable.

Gait apraxia in normal-pressure hydrocephalus: patterns of movement and muscle activation.

We made gait recordings in 11 patients with normal-pressure hydrocephalus. Sagittal rotations in hip, knee, and ankle joints were determined with intermittent light photography or with polarized light goniometry. In eight patients, gait muscle activation was determined with integrated surface EMG from six leg muscles on one side. We assessed the patterns of movement and muscle activity by averaging data from 20 gait cycles. Reduced speed and range of movements, short steps, small foot-floor clearance, and low swing-to-stance ratio were typical. The activation of the calf muscles was regularly premature and low. In severe disorders, there was continuous activity in the antigravity muscles acting on hip and knee joints. Gait records verified improvement after CSF drainage or shunting.