Motor imagery ability in children with congenital hemiplegia: effect of lesion side and functional level.

In addition to motor execution problems, children with hemiplegia have motor planning deficits, which may stem from poor motor imagery ability. This study aimed to provide a greater understanding of motor imagery ability in children with hemiplegia using the hand rotation task. Three groups of children, aged 8-12 years, participated: right hemiplegia (R-HEMI; N=21), left hemiplegia (L-HEMI; N=19) and comparisons (N=21). All groups conformed to biomechanical limitations of the task, supporting the use of motor imagery, and all showed the expected response-time trade-off for angle. The general slowing of responses in the HEMI groups did not reach significance compared to their peers. The L-HEMI group were less accurate than the comparison group while the R-HEMI group were more variable in their performance. These results appeared to be linked to functional level. Using the Vineland Adaptive Behavior Composite, children were classified as low or normal functioning - of the seven classified as low function, six were in the L-HEMI group. Accuracy was lower in the low function subgroup, but this failed to reach significance with an adjusted critical value. However, there was a strong correlation between function level and mean accuracy. This indicates that motor imagery performance may be more closely linked to function level than to the neural hemisphere that has been damaged in cases of congenital hemiplegia. Function level may be linked to the site or extent of neural damage or the level of cortical reorganisation experienced and more attention should be paid to neural factors in future research.

Isolated remethylation disorders: do our treatments benefit patients?

Deficiency of 5,10-methylenetetrahydrofolate reductase (MTHFR), the very rare methionine synthase reductase (CblE) and methionine synthase (CblG) defects, and the recently identified CblD-variant-1 defect are primary remethylation defects characterized by an isolated defect in methionine synthesis without methylmalonic aciduria. The clinical signs are mainly neurological, and hematological signs are seen in CblE, CblG, and CblD-variant-1 defects. Patients with neonatal or early-onset disease exhibit acute neurological distress. Infants and children have unspecific mental retardation, often with acquired microcephaly. Without appropriate therapy, they may experience acute or rapidly progressive neurological deterioration, which may be fatal. Adolescents and adults show normal development or mild developmental delay initially and then experience rapid neurological or behavioral deterioration. A few patients may have signs of subacute combined degeneration of the spinal cord. Adults may be asymptomatic or present with isolated thromboembolism. All patients with suspected remethylation disorders should receive emergency treatment with parenteral administration of hydroxocobalamin and folate supplements combined with betaine orally. The long-term treatment of CblE, CblG, and CblD-variant-1 defects consists of parenterally administered hydroxocobalamin and orally administered folate and betaine supplements, whereas patients with MTHFR deficiency require long-term oral folate and betaine supplements. Long-term oral methionine therapy should also be considered. Early treatment may lead to a favorable outcome with developmental recovery and prevention of further neurological deterioration. In contrast, most late-treated patients have severe and irreversible neuromotor impairments. Hematological abnormalities are easily corrected.

Late deformities following the transfer of the flexor carpi ulnaris to the extensor carpi radialis brevis in children with cerebral palsy.

PURPOSE: The transfer of flexor carpi ulnaris (FCU) to extensor carpi radialis brevis (ECRB) (the Green transfer) in children with cerebral palsy (CP) is a surgical option frequently used to address the typical wrist flexion deformity that is often present in these patients. We hypothesize that late deformities may occur when these transfers are performed in patients before skeletal maturity. The purpose of this investigation was to determine the frequency of these deformities and the factors that influence their development. METHODS: We performed 41 FCU to ECRB tendon transfers in children with CP at our institution between 1987 and 2005 and retrospectively reviewed them. A total of 24 patients with 25 transfers had a minimum 2-year follow-up and were included in the study population. We identified patients who developed a late deformity after tendon transfer. We analyzed medical records of these patients to identify factors associated with the development of a deformity. RESULTS: Of the 25 transfers, 12 developed a late deformity between 10 and 105 months postoperatively. The deformities that developed were extension deformities (8), supination deformities (one), and recurrent flexion deformities (3). Of the 12 patients with deformity, 9 required revision surgeries. Of these 12 patients, 9 who were less than 13 years of age at the time of transfer developed a late deformity, compared with 3 who were older than 13 years of age. CONCLUSIONS: The FCU to ECRB tendon transfer remains a viable option to address the wrist flexion deformity seen in patients with CP. Care should be taken when performing this tendon transfer in patients less than 13 years of age because they may develop a postoperative deformity, commonly an extension deformity. We believe that these deformities develop when the patient enters a growth spurt and the transferred muscle-tendon unit does not lengthen at the same rate as the involved upper extremity. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.

Atypical midline cleft with duplication of the metopic suture.

INTRODUCTION: In contrast to the common clefts of the lip, alveolus and palate, the atypical clefts of the face may come in myriad patterns of clinical expression and are often not easy to define. PURPOSE: In this report, a case of median craniofacial dysraphia is described. PATIENT: At presentation, the 3-month-old male patient had a bilateral complete cleft of the lip, alveolus and palate. The nose was wide and a horn was present on the nasal dorsum. 3-D CT AND MRI REVEALED: Duplication of the metopic suture ending at the wide anterior fontanel; orbital hypertelorism; midline cranial cleft ending just superior to the nasal dorsum; frontoethmoidal encephalocoele and holoprosencephaly. The presence of two metopic sutures was confirmed during surgery. CONCLUSION: The presented case carries the characteristics of the median cleft face syndrome. However, it differs from similar cases in two respects. First, the patient had two metopic sutures, one on either side of the cranial extension of the median cleft. Second, the patient had a bilateral cleft lip in contrast to the expected median cleft lip deformity.

[Surgical treatment of orthopedic deformities due to spasticity in the lower limb]. / Les traitements orthopédiques des conséquences dela spasticité membre inférieur.

Orthopedic deformities in the lower limb concern all joints (hip, knee, ankle, foot) with a wide range of clinical forms. Spasticity, contracture, stiffness, laxity, neurological deficit are assessed to establish the surgical procedure. Surgical techniques are adapted to the goals that are detailed with the patient and his family: standing, transferring, walking, hygiene, devices (shoes, orthosis, canes, wheelchair). Surgical procedures can associate: lengthening of contractured muscles (tenotomy with or without sutures, fractional lengthening at the musculo-tendinous junction or desinsertion), strengthening of antagonists (passive or active tendon transfer) and correction of joint deformity (arthrolysis, arthrodesis, arthroplasty). In adults, the most common deformities are the equinus or equinovarus foot, toe curling, hip adductum, knee flessum. Talus or knee recurvatum are less frequently observed. The association of various deformities raises questions concerning the hierarchy of surgical procedure, from an anatomical point of view (do we start with proximal or distal joint first?) as from chronological concerns (shall we do one or more procedures?). Pluridisciplinary assessment using neurological anesthetic blocs and dynamic EMG or gait analysis is necessary to detail the aims of surgery and choose the surgical procedures.

Evidence of altered dominance in children with congenital spastic hemiplegia.

The study aimed at investigating lateralization effects and signs of transfer and crowding in children with congenital lateralized brain damage with the aid of a dichotic listening test, a chimeric test, and verbal and nonverbal neuropsychological tests. Thirty-three children with spastic hemiplegia and 86 control children (age 5.0-12.0 yr) were assessed. Children with left-hemisphere damage (n = 17) were found to have a pathological left-ear advantage for verbal material, and children with right-hemisphere damage (n = 16) were found to have a pathological right visual half-field advantage for visual material. Children with left-hemisphere damage and a left-ear advantage on the dichotic test were also found to have a right visual half-field advantage on the chimeric test, which was regarded as a sign of reversed dominance. No verbal or nonverbal differences emerged between the left-hemisphere and the right-hemisphere damage groups, nor did differences emerge when the children were reclassified by considering children with left hemisphere damage and signs of reversed dominance as having damage to the nondominant hemisphere. It was concluded that although lateralized brain damage may alter the dominance for verbal and visual functions, there is still considerable inter-individual variability with respect to inter- and intrahemispheric neural adjustment to damage. The dichotic and the chimeric tests did not indicate the presence of brain damage accurately, but they indicated the lateralization of damage in children with stated abnormality with a high degree (91.3%) of accuracy.

Motor function of infants with spastic hemiplegia.

The motor function of 25 children with spastic hemiplegia was examined retrospectively using videotapes recorded at 2-8 months of age. Many infants showed deficient forward movement of the arm and deficient opening of the hand on the affected side. At 7 and 8 months of age, whether the hand was semiflexed or clenched was correlated with the later upper extremity function. In the prone position, most could support their weight on the flexed arm on the affected side. In the supine position, half of the infants could not extend the knee on the affected side. At 2 months of age, asymmetry of the upper and lower extremity movements was not identified. Persistent primitive reflexes and abnormal truncal muscular tone were not recognized in the hemiplegic infants, and did not seem to be signs predicting hemiplegic cerebral palsy.

Congenital nuclear syndrome of oculomotor nerve.

A patient is reported who suffered from a fixed, non-progressive encephalopathy caused by a lesion involving the left portion of both the mesencephalon and basal ganglia; the lesion was caused by an acquired prenatal vascular insult. The clinical expression of third cranial nerve palsy corresponds to a nuclear syndrome of the left oculomotor nerve, affecting both eyes asymmetrically, later developing into aberrant reinnervation.

Late fetal pontine destruction.

A child with an absent pons is described who died 8 weeks after birth. At postmortem examination, the defect was consistent with a vascular event in the last trimester.

Congenital defects of the bovine central nervous system.

What should you do if you observe a defective calf in a herd? Our suggestion is to seek qualified help to examine and diagnose the condition. Parentage should be verified by blood typing. But, most important, you can keep cattle genetically clean by having your clients report all defects in calves to their breed association and artificial insemination centers.

Congenital, latent and manifest latent nystagmus--similarities, differences and relation to strabismus.

Patients with congenital types of nystagmus, including congenital nystagmus (CN), latent/manifest latent nystagmus (LMLN) and combinations of the two, can be identified by waveform analysis and classified into three unambiguous groups. This categorization by waveform is supported by different clinical signs, including the relationship to strabismus. Strabismus is essential for LMLN but incidental to CN; most CN patients do not have strabismus. Seventy-seven percent of CN patients have a convergence null, 57% a gaze angle null and nearly half have both; only 14% have neither. Also supporting this patient grouping by waveform is the high incidence of patients in each of the two major groups (ie, they had either only CN waveforms or only the LMLN waveform). Comparing the incidence of each CN waveform, or combinations of waveforms, in families with that in the general CN population, reveals that heredity plays a role in determining waveform; heredity also affects other characteristics, such as gaze angle or convergence nulls. The nystagmus blockage syndrome has at least two mechanisms and the patients, therefore, can belong to either of two groups. Spasmus nutans is hypothesized to be an oscillation of the vergence system and therefore, unrelated to CN or LMLN.

Orofacial fine motor control impairments in congenital spasticity: evidence against hypertonus-related performance deficits.

Motor impairments in the fine force control of lips, tongue, and jaw were measured in subjects with congenital spasticity. Because these orofacial motor systems are not uniformly endowed with muscle spindles and monosynaptic reflexes, quantification of these motor impairments addresses the question of whether stretch reflex hypertonus is a positive or negative sign. The results indicated that hyperactive muscle spindle-based monosynaptic reflexes are not a causal factor in these voluntary orofacial motor impairments. These data also indicated that motor impairments were disproportionately greater at finer levels of isometric force control. These fine control measures appear useful as a quantitative index of general voluntary motor deficit.

Prenatal symmetrical thalamic degeneration with flexion spasticity at birth.

The unusual occurrence of spasticity at birth with symmetrical thalamic damage was found in a male infant delivered at 36 weeks' gestation following an episode of traumatically induced premature labor at 32 weeks. The infant was found to be spastic in flexion with increased stretch reflexes, depressed primitive reflexes, and moderate flexion contractures. Computerized tomographic scans showed bilateral nonenhancing thalamic densities. Neuropathologically, the lateral thalamic nuclei and the red nucleus showed neuron loss, astrocytosis, and, as confirmed by electron microprobe analysis, calcified neurons. The striatum was uninvolved. These findings closely resemble those reported as "symmetrical thalamic degeneration in infancy" and are strongly reminiscent of the pattern of thalamic involvement frequently seen in status marmoratus. It would appear that there is a period during perinatal life in which the lateral thalamus can be rendered vulnerable to hypoxic-ischemic injury, and that the thirty-second week of gestation must be included within this period.