Retarded Motor Development Research Articles

Osteogenesis imperfecta: profiles of motor development as assessed by a postal questionnaire.

This study was performed to achieve more detailed information regarding the age and sequence in the development of motor milestones in the different types of osteogenesis imperfecta (OI). The parents of 98 patients with a diagnosis of OI were sent a questionnaire regarding the age at which patients achieved motor milestones. All patients were attending the outpatient clinic for children with OI at the Wilhelmina Children's Hospital. The motor milestones were classified into static motor milestones and dynamic motor milestones and all data were checked with health care records. The age of development of motor milestones was compared to reference values of the healthy population. The severity of the disease was classified according to Sillence based on clinical, genetic and radiological data. The age of intramedullary rodding of the first nail in the lower and upper extremity and the localisation was noted. A total of 76 parents responded to the 98 questionnaires (78%). In OI type I, a delay exists in achieving motor milestones, comparable to the 95th percentile of the normal population. In type III, the development of all motor milestones was significantly delayed compared to types I and IV with a discrepancy between static and dynamic milestones. In OI type IV, a retardation in motor development developed after the milestone 'sitting without support' was achieved. Motor development in types I and IV was not influenced by intramedullary rodding of the lower extremities, since rodding was rarely performed before the milestone 'unsupported standing' was achieved. In type III, the influence of intramedullary rodding on the age of achieving motor milestones remains questionable. The severity of osteogenesis imperfecta has a large influence on the age and sequence in the development of motor milestones. No influence of intramedullary rodding of the lower extremities on motor development was found in osteogenesis imperfecta types I and IV, whereas the influence in type III remains questionable.

Dopamine function in Lesch-Nyhan disease.

Lesch-Nyhan disease is a disorder of purine metabolism resulting from mutations in the gene for hypoxanthine guanine phosphoribosyl transferase on the X chromosome. It is characterized by hyperuricemia and all of its consequences, as in gout; but in addition, patients have impressive disease of the central nervous system. This includes spasticity, involuntary movements, and retardation of motor development. The behavioral phenotype is best remembered by self-injurious biting behavior with attendant destruction of tissue. The connection between aberrant metabolism of purines and these neurologic and behavioral features of the disease is not clear. Increasing evidence points to imbalance of neurotransmitters. There is increased excretion of the serotonin metabolite 5-hydroxyindoleacetic acid in the urine. There are decreased quantities and activities of a number of dopaminergic functions. Positron emission tomography scanning has indicated deficiency in the dopamine transporter.

The Essential Role of IGF-I: Lessons from the Long-Term Study and Treatment of Children and Adults with Laron Syndrome

Fifty patients with primary GH resistance (Laron syndrome) due to molecular defects of the GH receptor or post-receptor pathways were followed from infancy through adulthood. This condition leading to long-term insulin-like growth factor-I (IGF-I) deprivation caused marked growth retardation (-4 to 8 height SD), acromicia, organomicria, retarded development of the skeletal and muscular systems, a small cranium, slow motor development, and impairment of intellectual development in some of the patients. In addition, there was progressive obesity, insulin resistance, a tendency for hypoglycemia, followed later in life by hypercholesterolemia and by glucose intolerance and even diabetes. IGF-I treatment of children with Laron syndrome, by our and other groups (150-240 microg/day sc), stimulated growth (8 cm in the first year and 4-5 cm in the following years) and normalized the biochemical abnormalities. Overdosage led to adverse effects such as hypoglycemia, edema, swelling of soft tissues, and hyperandrogenism. It is concluded that primary IGF-I deprivation induces severe auxological, biochemical, and hormonal changes, the only treatment being biosynthetic IGF-I administration.

Effects of prenatal stress on behaviour of offspring of laboratory and farmed mammals

This article is a review of research on effects of stress experienced by pregnant females on the sex-ratio, behaviour and reproductive success of their offspring. Implications of such effects for the behaviour and welfare of farm, zoo, and pet animals are discussed. Evidence mainly from studies of rodents and primates strongly indicates that prenatal stress can impair stress-coping ability, and is able to cause a disruption of behaviour in aversive or conflict-inducing situations in juvenile and adult offspring. In non-challenging situations, however, behavioural effects of prenatal stress are frequently not seen. Prenatally stressed animals are reported to show retarded motor development, reduced exploratory and play behaviour, and impairments of learning ability, social behaviour, and sexual and maternal behaviour. Prenatal stress may affect the sex-ratio at birth, and the reproductive success of these offspring in the first, and sometimes also in the second, generation. Individual variation in the susceptibility to prenatal stress may exist. Behavioural inhibition and anxiety when exposed to novelty are typical results which may underlie the effects of prenatal stress on learning and various behavioural responses. This seems to be related to increased or prolonged activity in the hypothalamic–pituitary–adrenal (HPA) axis produced by impaired negative feedback of glucocorticoids in the hippocampus, although other neuroendocrine pathways may be involved. Effects of prenatal stress may reflect evolutionarily adaptive mechanisms, favouring production of the sex which may serve as a helper-at-the-nest (usually females) and producing an increased HPA-axis dominance in these offspring which would favour defensive behavioural reactions in competitive or stressful situations. Since behavioural and neuroendocrine effects of prenatal stress in rodents are quite similar to those found in depressed humans, and since increased fearfulness and frustration is implicated, farm animals subjected to prenatal stress may be predicted to show a reduced ability to cope with a difficult environment and also have increased propensity for developing behavioural disturbances and reduced welfare. Recent results on farmed foxes, and indications in other farm species, show that prenatal stress may affect the behavioural development of farm animals. As knowledge in this area is scarce, more research is warranted. Effects of qualitative and quantitative aspects of handling, social relations and its disruption, and environmental conditions prior to mating and during gestation could be investigated. Effects should be sought on sexual maturation, sexual behaviour, maternal behaviour, fearfulness, behavioural responses to stress and novel stimuli, and behavioural effects of frustration. The interrelation between effects on offspring of necessary stressful treatment of pregnant mothers and effects of habituation to such treatment could also be studied.

Síndrome de desviagión paroxística benigna de la mirada hacia arriba

The benign paroxysmal tonic upward gaze syndrome (BPTUG) is a rare condition. We present two new cases analyzing the clinical, genetic, evolution and therapeutic aspects. Case 1. A 2 year-old girl with no family history of similar disorders started, at the age of 6 months, to have episodes of upward deviation of gaze with hyperextension of the neck and vertical nystagmus of fixation, increased by nervousness and episodes of fever. Some episodes caused the patient to fall in spite of there being no alteration of consciousness. Case 2. From the age of five months a 1 year-old girl with no significant personal or family history had episodes of ocular deviation upwards with forward inclination of the head to correct her gaze and slow motor development from the age of five months. Complementary studies were normal in both patients. As in the cases described in the literature, our cases had no family history and were not sensitive to Dopa. To date 11 children have been described in the literature and few familial cases seen with dominant autosomal inheritance. Our patients had a non-epileptic paroxystic phenomenon known as BPTUG syndrome. This condition starts during the first year of life, has a benign course and the episodes have ceased by the age of four years. We believe it is important to consider the differential diagnosis with epileptic phenomena, evaluate the response to L-Dopa and bear in mind that this syndrome may be the clinical expression of several different conditions. Although the course is usually benign, it may later be associated with other signs of neurological problems which should be taken into account.

The effects of early vestibular deprivation on the motor development in the rat

The motor development after uni- or bilateral vestibular deprivation from the 5th or 16th postnatal day was studied in 23 rats between the 6th and the 60th day. Their motor behaviour was compared to that of 17 normal rats. Vestibular deprivation from the 5th day causes a marked retardation in motor development. Our results suggest that this retardation is caused by non-optimal stabilization of the trunk during development. Vestibular deprivation from the 16th day causes only short lasting disturbances of motor behaviour for one or two days. The main permanent effect of bilateral vestibular deprivation is head oscillation during locomotion. The temporal organization of the motor behaviour of rats bilaterally deprived from the 5th day was disturbed as well. These rats show more bouts of locomotion, rearing and pivoting.

Perceptual-motor development and prevention of clumsiness.

This longitudinal study, following children's development over three years, examines the developmental trends in the processes underlying perceptual-motor behaviour. Entry into the study was at first year of primary school, at age 6. The study has three aims: (1) to obtain developmental trends in kinaesthesis and motor-programming processes; (2) to examine the relationship between slow kinaesthetic and motor development; (3) to establish the effect of accelerated kinaesthetic development and prevention of perceptual-motor dysfunction (clumsiness). The results to date show that over 60% of children entering primary school have not developed the kinaesthetic ability necessary for the acquisition and learning of educationally demanded motor skills. Kinaesthetic development is accelerated spontaneously in some children as a response to educational demands; in others a single exposure to kinaesthetic input triggers significant improvement. In the remaining 17% kinaesthetic training can alleviate the kinaesthetic dysfunction. At age 5-6 years only 25 children (8.1%) performed the Perceptual-Motor Abilities Test at levels indicative of perceptual-motor dysfunction. Of these, 13 children (4.2%) were identified as having motor difficulties. These low incidence rates indicate that a low level of kinaesthetic ability has no effect on general motor function at the beginning of schooling, and that only when competence in complex motor skills is expected, from the third year of schooling, does perceptual-motor dysfunction (PMD) become manifest.

Encephalopathy with intracerebral calcification, white matter lesions, growth hormone deficiency, microcephaly, and retinal degeneration: two sibs confirming a probably distinct entity.

Two sibs with an encephalopathy, including intracerebral calcification and white matter lesions, dwarfism owing to growth hormone deficiency, and retinal degeneration are reported. The onset of the disease in both patients occurred with retardation of motor development during the first year of life. Later, dwarfism, mental retardation, spasticity, ataxia, and retinal degeneration became apparent. These cases probably represent some form of connatal leucodystrophy. The differential diagnosis is discussed.

Establishment of lying out: an example for blackbuck ( Antilope cervicapra)

Establishment of “lying out” was charted for an Indian blackbuck antelope ( Antilope cervicapra) observed from birth until 8 days of age in 327 ha of fenced rangeland in the State of Texas, U.S.A. Within minutes of birth, periods of rest alone began alternating with periods of activity. Initially, the mother separated from the fawn rather than the reverse. As the fawn's locomotor abilities improved during the hours following birth, the mother continued to enforce the periodic character of contact possibilities. However, comparison supports the general conclusion that the principal responsibility for the lying-out pattern rests with the fawn. Conflicting inclinations to remain bedded after lying at the end of an activity bout, or to rise and nurse when the mother was still standing close by, or to follow as she left, contributed to the neonate's pattern of multiple bouts separated by short spans of lying down during activity periods. Although the fawn showed indications during two of its activity periods on the day of birth, its typical separate-search-bed sequence was not reliably established until 4 days of age (possibly a consequence of weak condition). Lying-out periods quickly moved toward 4 h in length. Morning disturbance when the fawn was 3 days old imposed transition to a 6 h average. This schedule was maintained during the remainder of the study with activity periods at dawn, midday, dusk and — to judge from observations over shorter distances elsewher — soon after midnight. Nursing time averaged 2 min per activity period, three quarters of that usually took place during the first bout of activity. Play (the other major activity) did not appear until the fawn was nearly 2 days old. Throughout the fawn's first week, the mother acted to minimize contact of her fawn with conspecifics, leading it away whenever it rose while other blackbuck were near. Distances traveled from day to day increased, but the fawn continued to localize in the same 10.6 ha of open grassland. Of 23 bedding sites checked, 18 were grassy and two of these grassy sites were used twice. Despite slow motor development for the observed Texas fawn, its example fits well with information on other fawns.

Pigmentary Type of Orthochromatic Leukodystrophy with Early Onset and Protracted Course

The pigmentary type of orthochromatic leukodystrophy (OLD) is a rare disorder in adults; only one questionable childhood case has been observed. We report the sporadic case of a male aged 26 years with early onset and protracted course. He presented retarded motor development from birth with ataxic gait and, at age 13 years, developed progressive mental and neurologic deterioration with tetraparesis, ataxia and seizures and died in a disabled, mute state. Repeated CT scans showed progressive diffuse cerebral atrophy and low density of the hemispheric white matter. Autopsy revealed OLD with pigmented macrophages and glial cells, ultrastructurally showing storage of lipofuscin and ceroid with multilamellar bodies or finger-print profiles. Abnormal cytoplasmic inclusions in reduced oligodendroglial cells suggest demyelination due to a primary defect of oligodendroglia in this rare disorder.

Influences on neuromotor development of 5 to 10-year-old children in Basel

In a longitudinal study concerning somatic, psychic, and social development of children in Basle, the neuromotor development at the age of 5 and 10 years was examined. Motor retardation shows significant correlations with psychic and social development. The way 5 year old children of working mothers have been taken care of showed a significant influence on motor development. A retardation in motor development of kindergarten children indicates an increased probability for further retardations in school age, too.

Congenital cutis laxa with retardation of growth and motor development: a recessive disorder of connective tissue with male lethality

A syndrome of cutis laxa, ligamentous laxity and delayed motor development has been reported in 13 children. All are girls. Four are from Saudi Arabia. Another Saudi Arabian girl, the product of a consanguineous union, is described with intrauterine growth retardation, delayed closure of the anterior fontanel, slow motor development, cutis laxa and ligamentous laxity. The syndrome appears to be an autosomal recessive disorder of connective tissue, with male lethality.

Are the effects of gestational stress on motor development and cerebellar cholinesterase activity mediated prenatally?

Prenatal random noise and light stress retards early motor development in the rat. To determine whether this delay is pre- or postnatally mediated and whether the developing cerebellum may play a role in the delay, rats were subjected to this form of stress and their offspring were fostered or cross-fostered onto control rats and vice versa. Their motor development was assessed by a series of behavioral tests between birth and day 10 of life.Prenatally stressed pups (Eo). whether reared by stressed (Em) or control mothers (Cm), showed a retardation in motor development. However, stressed pups matured earlier when reared by a control mother than by a stressed dam. Control pups (Co) raised by stressed mothers showed normal behavioral development.Cerebellar cholinesterase activity, which has been shown to undergo characteristic alterations with normal maturation, did not differ between stressed and control pups at birth. However, on day 10, cholinesterase activity was lower in EmCo than in CmCo pups, whereas that in CmEo and EmEo pups did not differ significantly from controls.It is concluded that three effects of random noise and light stress during pregnancy may be distinguished: 1.(1) A prenatal effect as expressed by a delay in motor development2.(2) a postnatal (rearing) effect on motor development and3.(3) a rearing effect expressed as a decrease in cerebellar ChE activity.

INHERITED PRPP SYNTHETASE SUPERACTIVITY DUE: TO ABERRANT INHIBITOR AND ACTIVATOR RESPONSIVENESS: 12

Superactivity of PRPP synthetase (PS) is associated with purine nucleotide and uric acid overproduction, usually manifested by early adult-onset gout. We studied fibroblasts and lymphoblasts from a male child (NB) with inherited uric acid overproduction, deafness, and retarded motor development, suspected to have a superactive PS (Simmonds et al. 1982. Lancet 2:68-70). Our studies confirm a defective enzyme altered in regulation of PS activity in response to noncompetitive inhibitors and to the activator, Pi.

Ｐｉｅｒｒｅ Ｒｏｂｉｎ症候群の２例

Pierre Robin Syndrome is characterized by micrognathia, glossoptosis, and inspiratory obstruction in birth.In addition, case 1 had cleft palate, low set ears, atresia of external meatuses epicanthus, entropium ciliarum, pigeon breast, congenital high scapulae, cubitus varus, subluxation of hips, congenital club-feet, cryptorchisms, ventricular septal defect, speech disturbance, conductive deafness, and mental retardation.Case 2 had high arched palate, low set ears, extropia of the right eys, epicanthus, pigeon breast, spastic pes equinus, right inguinal hernia, right cryptorchism, ventricular septal defect, malrotation of the intestine, speech disturbance, and the retardation of motor development and mentality.

Modulation of brain development by morphine: Effects on central motor systems and behavior

Morphine administration to neonatal rats on days 1–7 after birth produced long-term changes in behavior and brain function. The pups were smaller than saline-treated littermates and showed retarded motor development. As adults, the morphine-treated rats had impaired motor coordination, altered gait, and altered patterns of activity in an open field. Several brain regions of the adult rats, including motor areas, had decreased metabolic activity as measured by the 2-deoxy-glucose technique, suggesting decreased functional activity in these areas. These results may be relevant to findings that children exposed in utero to narcotics tend to have impaired motor development.

The psychological profile of the fragile X syndrome.

An attempt is made to present a more accurate description of the psychological profile of males with the fragile X syndrome after the evaluation of an unselected group of 21 affected patients. Except for one boy with slight mental retardation, all were moderately to severely mentally retarded, with retardation of motor development and pronounced speech disability. The most striking behavioural problem is hyperactivity together with concentration difficulties. A great number of patients show automutilation especially with handbiting, and autistic behaviour also appears in some of them.

Delayed Motor Development in Infants with Severe Sensorineural Hearing Loss

Long-term observations on achievement of gross motor functions such as head control and walking were made in ninety-one infants with severe sensorineural hearing loss. Infants associated with neurological diseases were excluded. For statistical analysis the 91 patients were classified into two groups; group A including 51 infants with profound hearing loss over 90dB, and group B including 40 infants with hearing loss less than 90dB. The infants with delay in walking were 67per cent in group A and 37per cent in group B. The difference of the percentage between the two groups was highly significant statistically. According to the mother's report, 71per cent of the delayed walking and 21per cent of the infants who started to walk at the normal age had delayed in achieving head control. Although the causes of hearing loss of the 91 infants were varied, 58per cent of the infants in group A and 82per cent of the infants in group B were etiologically genetic or unknown. From the etiological standpoint there was not a definite correlation between the retarded motor development and the causes of hearing loss. In conclusion, it may be said that slow acquisition of the control of head movement as well as walking in infants with severe sensorineural hearing loss may be mainly attributed to the vestibular hypofunction.

The effect of litter size on the growth, survival and behaviour of neonatal bulbectomised mice.

Bilateral lesions of the olfactory bulbs in 1-day-old mice led to a slow rate of growth both before and after weaning and the growth changes were positively associated with the size of the lesion. Mothers continued to care for the bulbectomised mice which showed no evidence of retarded motor development though their eyes opened later and they were less active when exposed to an artificial perfume. Bulbectomised mice failed to survive in litters of two where both infants were bulbectomised and in litters with a large number of unoperated littermates. Keeping litters small and having both bulbectomised and control mice present enhanced the chances of survival and the presence of infant control mice is a necessary condition for the maintenance of lactation and the survival of the bulbectomised babies. Failure to respond to the odours( pheromones) of the mothers may be responsible for the infrequent suckling and the slow growth and development.

Long-term hemodialysis in the neonatal period.

A 4-kg newborn baby with terminal uremia underwent 28 technically successful hemodialyses over a two-month period. A profunda femoris artery to saphenous vein silastic special pediatric shunt and four different pediatric dialyzer systems were used. Glucose added to the dialysate solution and intravenous mannitol administration prevented significant fluctuations in serum osmolality. Severe hypertension, malnutrition, electrolyte imbalance, and retarded motor development were problems encountered.