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PubMed2003

Cervical myelomeningocele--follow-up of five patients.

Only a few series of patients with cervical myelomenigocele (cMMC) and cervical meningocele (cMC) have been published. Interventions as well as the neurologic, orthopaedic, urologic and intellectual outcomes were analysed in this retrospective description of five patients with cMMC and cMC diagnosed in the period 1984-1999. Four patients suffered from cMMC, one from cMC. The average duration of follow-up was 9.5 years. None of the patients had periconceptual prevention with folic acid. Three had a Chiari II malformation and two a hydrocephalus. Tethering of the cervical cord was demonstrated in three patients at follow-up. All children achieved an independent ambulatory function and urinary continence. Incomplete sensorimotor hemiparesis was present in two children, and a mild unilateral arm paresis in one. Two of five patients had age appropriate cognitive functions. Three patients with mild mental retardation or behavioural problems had to be placed in special classes. The outcome of patients with cMMC is favourable regarding to the neurologic, orthopaedic and urologic problems compared with lower neural tube defects. However, the burden of repeated examinations and therapies is considerable and induces high costs, therefore prevention with periconceptual folic acid is a crucial issue also in cMMC. Spinal cord dysfunction has to be considered in growing children due to persistent tethering or re-tethering, therefore regular neurologic and urodynamic investigations are of particular importance.

Activities of Daily Living↗

PubMed2006

Semantic memory deficits in low-educated patients with Alzheimer's disease.

BACKGROUND/PURPOSE: Although a deficit of semantic memory is evident in the dementia of the Alzheimer's type (DAT), the underlying neuropsychologic mechanism remains controversial. Breakdown of the semantic network during the course of DAT and an inability to access semantic information have been postulated as possible explanations, but supporting data are limited, particularly in low-educated patients. This study examined semantic memory in low-educated patients with different degrees of dementia severity. METHODS: In total, 197 adult subjects were recruited, including 165 DAT patients and 32 normal controls. Subjects were divided into four subgroups according to their dementia severity. All subjects completed an episodic memory task, the Six-Object Memory Test, and semantic memory tasks including the Object Naming Test, the Remote Memory Test and the Semantic Association of Verbal Fluency Test. One-way ANOVA and ANCOVA with a post hoc Scheffe's procedure were used to evaluate differences between groups. RESULTS: All patients, irrespective of the degree of dementia, showed impaired performance on the Six-Object Memory Test [F (4, 163) = 69.95, p < 0.0001 for immediate recall; F (4, 163) = 41.34, p < 0.0001 for delayed recall]. On the semantic memory tasks, patients with moderate to severe dementia showed impaired performances on the Object Naming Test [F (4, 180) = 28.25, p < 0.0001] and the Remote Memory Test [F (4, 167) = 26.22, p < 0.0001 for recall; F (4, 167) = 34.80, p < 0.0001 for recognition], while all patients performed defectively on the Semantic Association of Verbal Fluency Test [F (4, 194) = 70.43, p < 0.0001]. CONCLUSION: Our results thus partially support the hypotheses that a loss of semantic structure and an inability to access semantic knowledge occur in the pathogenesis of DAT.

Aged↗

PubMed2001

Quality of life and perceived health status in surviving adults with univentricular heart.

OBJECTIVE: To evaluate the quality of life in patients with univentricular heart and to determine the impact of sociodemographic and clinical characteristics. DESIGN AND SETTING: Retrospective, cross sectional study conducted in a regional paediatric cardiology centre. PATIENTS: The health records of 89 survivors with univentricular heart (median age 21 years; range 17-49 years) were reviewed. Sixty seven answered the Duke questionnaire. Sociodemographic and clinical variables were similar in the responders and non-responders. The impact of sociodemographic and clinical variables on individual Duke's measures was assessed. RESULTS: The Duke scores of adults with univentricular heart were similar to the normal population. Cyanosis predicted a worse score for physical (p = 0.05) and perceived health measures (p = 0.02). A higher educational level predicted a better score for physical (p = 0.004), mental (p = 0.01), and general health measures (p = 0.02). Orthopaedic problems worsened the social score (p = 0.05). Psychosocial problems worsened the pain score (p = 0.04). In comparison with the other anatomical types, mitral atresia worsened the perceived health score (p = 0.02). Patients younger than 23 years scored better for almost all health and dysfunction measures. CONCLUSIONS: Despite repeated interventions and other disease related everyday stresses, a selected group of adults with univentricular heart had a satisfying quality of life.

Adolescent↗

PubMed1986

Cognitive changes after social skills training with young mildly mentally handicapped adults.

There have been several recent reports which indicate that social skills training may be a useful technique for helping mentally handicapped adults who have social defects. These reports have focused on the acquisition of skills and abilities and there has been a relative lack of emphasis on cognitive factors. In general clinical work, the author has been aware that cognitions are crucial in the social performance of mildly mentally handicapped people and this paper uses three case studies to illustrate the importance of cognitions in their social functioning. The case studies provide examples of poor self concept, lack of confidence, anxiety-related self statements and antagonistic attitudes towards interaction. They also illustrate that it is not necessary for patients to change their social skills for there to be concurrent cognitive changes.

Adolescent↗

PubMed1992

Cognitive modifiability of adolescents with schizophrenia: a research note.

It is well documented that schizophrenic patients suffer from numerous cognitive defects. In a preliminary investigation, the Learning Potential Assessment Device was used under controlled conditions to examine the cognitive modifiability of institutionalized adolescent schizophrenics (N = 12) and a contrast group of adolescents with severe conduct disorders (N = 10). Feuerstein's theory of structural cognitive modifiability was thus applied in assessing potential for change. Results are encouraging in that there was evidence of the modifiability of the experimental subgroups of both the schizophrenic and conduct disorder groups.

Adolescent↗

PubMed1993

Angelman syndrome.

BACKGROUND: Angelman (happy puppet) syndrome is a neuro-developmental condition characterized by an ataxic gait with puppet-like limb movements, paroxysmal bouts of laughter and severe mental retardation. Although considered a rare condition, over 140 cases have been documented since its designation in 1965. To date, only one study has been published investigating the ocular defects of Angelman syndrome. METHODS: In this paper we report the cognitive, motor, systemic, and oculo-visual findings of a 3 year old child with Angelman syndrome. RESULTS: The oculo-visual findings include choroidal hypopigmentation, iris hypopigmentation, strabismus, and hyperopia. CONCLUSIONS: As in many neuro-developmental conditions, early diagnosis is crucial. The ocular findings of fundal/iris hypopigmentation and strabismus with minimal refractive error in conjunction with the cognitive, behavioral, and motoric characteristics the patient exhibits may be the first clues for the diagnosis of Angelman Syndrome in a developmentally delayed child. The initiation of individualized optometric diagnosis and treatment is important for all children with developmental disabilities. The eye care professional should work in concert with speech, occupational, and physical therapists, neurologists, and special educators in the multi-disciplinary treatment and habilitation of all children with disabilities including those with Angelman Syndrome.

Angelman Syndrome↗

PubMedDate not supplied

[Adolescent congenital heart disease: quality of life in patients not undergoing intracardiac repair].

The quality of life of adolescent patients with congenital heart disease (CHD) who have not undergone intracardiac repair was investigated by assessing the physical activity, complications, and the educational and occupational status of 69 patients (32 males and 37 females, average age 18 +/- 2 years) who had graduated from junior high school by April 1993. Group A consisted of 54 patients with mild CHD (small left-to-right shunt disease, mild aortic stenosis and/or regurgitation, and other CHD) who reported to have no symptoms. Group B consisted of 15 patients who complained of restrictions on physical activity associated with CHD (Eisenmenger syndrome, and CHD complicated with pulmonary atresia or severe pulmonary stenosis). All group A patients were in NYHA class I, and none had had serious complications due to CHD. Their heart condition had not been a disadvantage in terms of educational and occupational opportunities after graduation from junior high school. All group B patients in NYHA class II had reduced physical activity. Eleven patients suffered from complications associated with CHD, such as brain abscess, infective endocarditis, Down syndrome, supraventricular tachycardia, brain infarction, hemoptysis, mental retardation associated with conotruncal anomaly face syndrome, and I degree AV block without symptoms. Two remained at home after graduation from junior high school, and four after high school. Only two of 15 obtained full time jobs after graduation from high school. About half of the patients with symptomatic CHD are unable to participate actively in society since graduation from junior high or high school.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗

PubMed1991

Recombinant 8 syndrome: the pool of Hispanic pericentric inversion 8 carriers expands numerically and geographically.

Recombinant 8 syndrome is a well-established syndrome with mental and developmental retardation and usually severe cardiac anomalies. A carrier parent will produce affected offspring in 6% of pregnancies and carrier offspring in 53% of such pregnancies. Four New Mexican kindres ascertained by the discovery of four apparently unrelated probands with cytogenetically confirmed recombinant 8 syndrome were studied. We found that (1) recombinant 8 syndrome will soon no longer be confined to New Mexico and southern Colorado, (2) the number of persons at risk may be higher than previously considered, and (3) through proper pedigree techniques and increased professional education, most carriers can be identified.

Chromosome Aberrations↗

PubMed1983

Primary memory and secondary memory in dementia of the Alzheimer type.

Free recall of word lists was investigated in a sample of 47 patients with dementia of the Alzheimer type (DAT) and 31 normal controls of equivalent age and education. Recall was divided into primary memory (PM) and secondary memory (SM) components based on the number of items intervening between presentation and recall. The findings were as follows: (1) the patients showed a greater deficit on the SM than on the PM measure; (2) there was little evidence of proactive interference in the patient group; (3) the PM and SM measures were independent in the controls but not in the patient group; and, (4) the size of patients' PM deficit increased linearly with increasing items between presentation and attempted recall. These results suggest that the memory disorder of DAT is partially the result of defective PM.

Aged↗

PubMed1990

Observations on early school failure in Zulu children.

The outcome of the screening of 2,190 children who had to repeat the school entry grades (Substandard A) in 25 junior primary schools in two KwaZulu townships is reported and the implications are discussed. The high number of repeaters did not appear to be due to an excess of mentally retarded children, the percentage being similar to that which could be expected in such a community world-wide. Difficulty in intelligence testing was experienced, but we describe how this was overcome by testing speed of learning. Visual defects, hearing defects and having no food before school accounted for the failure of many repeaters. Lack of preschool teaching by parents and schools and very strict discipline necessitated by large classes and a wide range in ages, which both led to anxiety on the part of the pupils, and sending children to school at too young an age were regarded as additional factors. Simple interventions were suggested to the school teachers; more than 1,000 pupils were followed up, with encouraging results.

Black or African American↗

PubMed1980

Early detection and treatment of mental and physical disabilities: from the standpoints of maternal and child health care.

Japanese maternal and child health policies and measures have implemental health examinations, health guidances, health educations and medical aids program and so on which aim at the following items: 1) Protection and promotion of pregnant women's and infants' health, i.e. the reduction of mortalities; 2) Prevention of the occurrence of mental and physical disabilities; and 3) Sound development of children. In this paper, our administrative structure, the mass screening program for congenital metabolic abnormalities followed by the medical aids program were mentioned. These activities have been carried out in order to detect mental and physical disabilities in their early stage and to prevent to occurrence and further aggravations of the disabilities through providing good medical care services. First of all, our MCH activities are characterized by smooth relationship and close unity of central government, local governments and voluntary bodies. Concerning the congenital metabolic abnormalities, the screening program was started in 1977. Since then 266 patients were found under this program and along with the medical aids program the screening program has proved effective of the early treatments. Finally, it was briefly stated that establishment of a monitoring system of congenital defects, including establishment of a monitoring center, is seriously considering as an important future project of our MCH policies.

Child Health Services↗

PubMed1986

[Features of the organization of occupational therapy in the complex treatment of patients with severe degrees of mental retardation].

A clinical and experimental study of two groups of patients with idiopathic oligophrenia in the stages of idiocy and deep imbecility bordering on idiocy (48 adults aged 23-35 years and 14 boys aged 12-16 years with different terms of total hospitalization) has shown the possibility of changing behavioural reactions of the patients. Stable occupational skills for performing two kinds of elementary work (preparation of half-finished cardboard boxes and assembling of panels) have been cultivated in the patients. The methods for the organization of labor therapy for patients suffering from erectile and torpid forms of this disease have been elaborated. The data suggest that it is possible to develop purposeful forms of behaviour in patients of this group. Comparison of two different age groups shows the necessity of the earliest possible employment of labor therapy in the combined treatment aimed at correcting the psychomotor defects.

Adolescent↗

PubMed1992

Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation.

Since some patients with Ullrich-Turner syndrome (UTS) have mental retardation, we reviewed our experience to look for a high-risk subgroup. Among 190 UTS and gonadal dysgenesis patients with X chromosome abnormalities, 12 had mental retardation. All of the six (100%) with a small ring X were educable (EMI) or trainable mentally impaired (TMI) with more severe delay than expected in UTS. Among the 184 with other X abnormalities, only 6 had similar delays (2 from postnatal catastrophes), for a frequency of 3.3% mental retardation among those without a small ring X; only 2.2% of these had unexplained mental retardation. Polymerase chain reaction studies showed no Y-derived material in the 2 patients who were evaluated, and in situ hybridization confirmed X origin of the ring in the 6 subjects who were evaluated. We describe the phenotype of the 6 individuals with a small ring X, and an additional 2 patients with a small ring X who were identified outside the survey. The subjects with a small ring X comprised a clinically distinct subgroup which had EMI/TMI and shorter stature than expected in UTS. Seizures and a head circumference less than 10th centile were observed in half of the patients with a small ring X, and strabismus, epicanthus, and single palmar creases were present in more than half. A "triangular" face in childhood, pigmentary dysplasia, sacral dimple, and heart defects were also common. Neck webbing appeared to be less frequent than in 45,X. We hypothesize that the high risk of mental retardation in this form of the UTS results from lack of lyonization of the ring X due to loss of the X inactivation center. Excluding those with a small ring X, mental retardation is not significantly increased in patients with UTS.

Adolescent↗

PubMed2004

Relationships between constructional and visuospatial abilities in normal subjects and in focal brain-damaged patients.

We tested 125 normal subjects and 24 right and 22 left focal brain-damaged patients (RBD and LBD) on the Rey figure copying test and on a battery of perceptual and representational visuospatial tasks, in search of relationships between constructional and visuospatial abilities. Selected RBD and LBD were not affected by severe aphasia, unilateral spatial neglect or general intellectual defects. Both RBD and LBD showed defective performances on the constructional task with respect to normal subjects. As regards visuospatial tasks, both patient groups scored lower than normal subjects in judging angle width and mentally assembling geometrical figures; moreover, RBD, but not LBD, achieved scores significantly lower than healthy controls in judging line orientation and analyzing geometrical figures. Post-hoc comparisons did not reveal any significant differences between RBD and LBD. Multiple regression analysis showed that visuospatial abilities correlate with accuracy in copying geometrical drawings in normal subjects and in RBD, but not in LBD. From a theoretical perspective, these findings support the idea that visual perceptual and representational abilities do play a role in constructional skills.

Aged↗

PubMed2004

Parents' experiences of having a child with cleft lip and palate.

BACKGROUND: Giving birth to a child with cleft lip and palate (CLP) can be emotionally traumatic for parents. The facial appearance awakens feelings and reactions in the family and other people. Feeding these children in the neonatal period is known to be difficult. Previous research has mainly dealt with visual defects, feeding and speech problems. There is a lack of studies about parents' experiences of having a child with CLP. AIMS: This study was performed to investigate parents' experiences of having a child born with a cleft lip or CLP, and how they perceive encouragement and social and mental support from professionals, family and friends. METHOD: A phenomenographic approach was used. The study was performed at a university hospital in central Sweden. Twenty families (20 mothers and 12 fathers) were interviewed using guided interviews. FINDINGS: Two categories, consisting of three and two subcategories, emerged. Informants described their experiences of having a child with CLP, how they slowly adapted to this situation, the first meeting with their child, support from professionals, and reactions from family and other people. Parents commented on the craniofacial team with satisfaction. Due to a low level of knowledge, other professionals often had difficulty in handling the situation and a poor quality of advice on feeding was reported. Family and friends commented on the child positively or by being neutral, which was seen as a lack of interest. A visible scar on the face was seen as a problem, especially for girls. Most informants expressed anxiety about possible problems with speech. CONCLUSIONS: Parents did not look upon their child as handicapped but as having a congenital defect or 'flaw'. The findings of this study could be used in staff education to promote understanding of parents' experiences and how best to help them. They could also be used in the general media to improve public understanding. Future research could explore staff perceptions of this sensitive clinical area.

Adaptation, Psychological↗

PubMed1999

Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency).

Carbohydrate-deficient glycoconjugate (CDG) syndrome type I due to phosphomannomutase deficiency (CDGIA) is the most common among a group of metabolic disorders characterized by a defective glycosylation of glycoconjugates. Clinically it is a multisystem disease with an important involvement of the central nervous system including pontocerebellar atrophy. Here the developmental patterns and results of neuropsychological assessment of four young adults with CDGIA syndrome are reported. The patients, aged 14-26 years, had classical clinical findings of CDGIA syndrome and olivopontocerebellar atrophy of severe degree. They had a marked delay in all areas of psychomotor development and gained to walk with aid, perform manipulative abilities and develop a communicative language after the 7th year. Later on, the acquired abilities remained stable, while self-help skills gradually improved, allowing the patients to join the family life. On neuropsychological assessment, there was mental retardation of variable degree with a special impairment of visuoperceptual skills, visuospatial organization, eye-hand coordination, verbal memory and language. Such findings, may be partially explained by the supratentorial atrophy in our patients and add more evidences to the role of the cerebellum and brainstem in the acquisition of non-motor cognitive functions. This study expands our understanding on the clinical spectrum of CDGIA syndrome and may be helpful for planning rehabilitation and education.

Adolescent↗

PubMed2005

Infanticide in female forensic patients: the view from the evolutionary standpoint.

Evolutionary theory predicts that very young mothers would be more likely to kill an infant than older women, given that the younger mother has a much greater ability to "replace" the dead child through subsequent pregnancies and thus to produce offspring for the next generation. Evolutionary theory also predicts that a woman would be more likely to kill a child if the child was obviously defective, the pregnancy was the result of incest or rape, or if the mother's means of supporting the child were severely compromised. The authors hypothesized that mentally ill mothers would behave in a way that differed significantly from evolutionary expectations, i.e., that they would be more likely to kill children who were older than those killed by mothers in the general population and that the mothers themselves would be likely to be older than mothers in the general population when the murders occurred. To test this hypothesis, the authors compared infanticides (both filicides and neonaticides) committed by mentally ill mothers with those committed by mothers in the general population. They examined two samples: 1) all cases of maternal infanticide from the Mid-Hudson Forensic Psychiatric Hospital from 1978 (when the hospital began admitting female patients) through the year 2000 and 2) a general population sample from a 10-year Canadian study reported by Daly and Wilson in 1998. The authors focused on the following variables: ages of the mothers, ages of the child-victims, whether the pregnancy was the result of rape or incest, whether the child had significant behavioral or physical problems, and whether there were problems supporting the child (e.g., having no partner, poverty, mother's lack of education). The results of the analyses supported the authors' hypothesis about ages of mothers and children. The mentally ill mothers in the Mid-Hudson sample were generally older when they killed their children and the children who were killed were generally older than in the Daly and Wilson general population sample (where the majority of the cases involved neonaticide and the mothers were generally younger than 25 years of age). The three factors, poverty, low education level (or low intellectual capacity), and lack of a spouse were common in both samples. Findings concerning cultural factors, motives, and methods used will be presented in separate publications.

Adolescent↗

PubMed1990

[Incidence of the minimal brain dysfunction syndrome in children].

The paper explains the social need of epidemiological research of the incidence of behavioural and learning disorders associated with the syndrome of minimal brain dysfunction (MBD). The authors draw attention to the continuous incidence of various inborn developmental defects in the population from very severe to mild ones and provide evidence of it on the basis of research in behavioural teratology. They discuss the possible relationship of MBD with psychosocial and chemical influences. They discuss preventive measures to avoid secondary deterioration of the mental and general health status. A specific approach to teaching of these children and psychotherapeutic influencing of parents is essential and one cannot rely only on early therapeutic effects by drugs. To implement preventive measures the latter must be planned on the background of knowledge regarding the incidence in the child population and the severity of the affection. This calls for the elaboration of a screening method for the early diagnosis of MBD. Knowledge of the incidence of MBD in the population along with possible aetiopathogenetic factors, will make more profound research of these association and primary prevention possible.

Attention Deficit Disorder with Hyperactivity↗