1/14. A school-aged child with delayed reading skills.During a health supervision visit, the father of a 7.5-year-old African American second-grader asked about his son's progress in reading. He was concerned when, at a recent teacher-parent conference to review Darren's progress, the teacher remarked that Darren was not keeping up with reading skills compared with others in his class. She said that he had difficulty sounding out some words correctly. In addition, he could not recall words he had read the day before. The teacher commented that Darren was a gregarious, friendly child with better-than-average verbal communication skills. His achievement at math was age-appropriate; spelling, however, was difficult for Darren, with many deleted letters and reversals of written letters. A focused history did not reveal any risk factors for a learning problem in the prenatal or perinatal periods. Early motor, language, and social milestones were achieved on time. Darren had not experienced any head injury, loss of consciousness, or chronic medical illness. He had several friends, and his father denied any behavioral problems at home or at school. His teacher completed a DSM-IV-specific behavioral survey for attention-deficit/hyperactivity disorder (ADHD). It did not show any evidence of ADHD. Darren's father completed 1 year of college and is currently the manager of a neighborhood convenience store. His mother had a high school education; she recalled that she found it difficult to complete assignments that required reading or writing. She is employed as a waitress. Darren does not have any siblings. The pediatrician performed a complete physical examination, the results of which were normal, including visual acuity, audiometry, and a neurological examination. It was noted that Darren seemed to pause several times in response to questions or commands. On two occasions, during finger-nose testing and a request to assess tandem gait, directions required repetition. overall, he was pleasant and seemed to enjoy the visit. His pediatrician concluded that he had a learning problem but she was uncertain about the next step. She asked herself, "Is there anything else I can do in the office to evaluate Darren's problem with learning? Should I quickly refer him for educational testing or encourage a reading tutor? What questions can I ask his teacher that would be helpful? Am I missing a medical disorder?"- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/14. Mapping studies on a pericentric inversion (18) (p11.31 q21.1) in a family with both schizophrenia and learning disability.Chromosomal abnormalities that co-occur with psychiatric disorders can be useful direct pointers to the locus of susceptibility genes. Two families with pericentric inversions of chromosome 18, inv 18(p11.3 q21.1) and psychiatric illness have previously been described. We have fine mapped the chromosomal breakpoints of the rearrangement in a clinically well, inversion carrier from one of these families where other inversion carriers suffered from chronic schizophrenia or severe learning disability. Yeast artificial chromosomes (YACs) from the Whitehead/MIT physical maps of human chromosome 18 have been positioned relative to the chromosomal breakpoints and a number of YACs that span these breakpoints have been identified. Linkage and association studies have previously suggested these regions of chromosome 18q and 18p as candidate loci harbouring genes involved in bipolar disorder and schizophrenia.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/14. Neurodevelopmental profile of a new dysmorphic syndrome associated with submicroscopic partial deletion of 1p36.3.We describe four children with dysmorphic syndrome with severe learning disability (SLD). Their chromosomes had been normal on conventional cytogenetic examination. However, screening using a multiprobe fluorescence in situ hybridisation (FISH) technique for subtelomeric abnormalities revealed a deletion of the p arm of chromosome 1. The physical features include body asymmetry, microcephaly, distinctive facies with deep-set eyes, sharply defined eye sockets, and mid-face hypoplasia; the neurodevelopmental profile was characterised by SLD, motor delay with hypotonia, markedly delayed visual maturation, and postural asymmetry together with epilepsy. This phenotype is consistent with that described for partial monosomy for 1p36.3.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/14. Neuropsychiatric aspects of sotos syndrome. A review and two case illustrations.sotos syndrome, also known as cerebral gigantism, is a rare growth disorder first described by Sotos and colleagues in 1964. Since then, a majority of the literature pertaining to sotos syndrome has focussed on the medical aspects of the syndrome, while neuropsychiatric issues have been given little attention. The present article presents a review of the current knowledge concerning neuropsychiatric aspects of sotos syndrome. Information is provided relating to physical appearance, intellectual impairment, learning disabilities, language impairments, behavioural disorders and outcome. It is emphasised that careful delineation of neuropsychiatric aspects within a diagnostic syndrome may turn out to be the first step towards molecular characterisation of behaviour.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/14. Adrenal functions in children with adrenoleukodystrophy.BACKGROUND: adrenoleukodystrophy refers to an inherited disorder that mainly affects the adrenal gland, and the nervous system. The most common type is X-linked adrenoleukodystrophy (XALD). The main presenting symptoms are behavioral changes. However, endocrinological manifestations are also important and need to be clarified especially adrenal insufficiency which is a lifethreatening condition that can be prevented. OBJECTIVE: To review the endocrinological and the adrenal functions in X-linked ALD. SUBJECTS AND METHOD: The medical records of four patients diagnosed with ALD at the endocrinology and Metabolic Unit, Department of pediatrics, King Chulalongkorn Memorial Hospital between 1998 and 2000 were reviewed. The diagnoses were confirmed by elevated very long chain fatty acid (VLCFA) levels and the typical changes seen on magnetic resonance imaging (MRI) of the brain. The adrenal functions in these patients were studied. RESULTS: All patients presented between 7-11 years of age with learning problems and behavioral changes, without symptoms of adrenal insufficiency such as nausea, vomiting and abdominal pain. However, the physical signs of adrenal insufficiency such as generalized hyperpigmentation particularly on the nipples, skin creases and genitalia were present. The laboratory investigations revealed normal blood sugar and serum electrolytes. The adrenal functions were revealed as follows. Basal ACTH levels were high in 2 cases (290, > 1,250 pg/mL). Basal cortisol level was low in 1 case. ACTH stimulation tests revealed subnormal responses in 3 cases. magnetic resonance imaging of the brain showed white matter degeneration in the occipital area in 2 cases and frontal area in 2 cases. CONCLUSION: adrenal insufficiency can be detected by laboratory evaluation despite the lack of symptoms, therefore, the adrenal function should be evaluated in X-ALD at diagnosis for proper management.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/14. learning and behavioural difficulties but not microcephaly in three brothers resulting from undiagnosed maternal phenylketonuria.Universal screening introduced in the 1960s has reduced the incidence of learning disability resulting from phenylketonuria (PKU), which is a treatable condition. Nonetheless, PKU may still be having an impact on the paediatric-age population. We report a woman with previously undiagnosed PKU who was born before the onset of universal screening. She is of normal intelligence, and so the diagnosis was not suspected until after the birth of her three children. Her serum phenylalanine concentration was found to be in excess of 1 mmol/L, well into the toxic range. She has had three sons, all of whom have a significant degree of learning disability resulting from intrauterine exposure to toxic levels of phenylalanine. None of the sons had microcephaly, a physical sign that, if present, might have helped to point towards the correct diagnosis. We suggest that maternal PKU should be suspected where there is sibling recurrence of cognitive impairment, particularly where the mother was born before the initiation of the neonatal screening programme for PKU.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/14. Inherited ring chromosome 8 without loss of subtelomeric sequences.We report the first case of inherited ring chromosome 8 syndrome without loss of subtelomeric sequences. The proband is a 6 1/2-year-old boy with short stature, microcephaly, mild mental retardation, and behavioral problems including hyperactivity and attention deficit. His mother presented the same physical features but intelligence was normal. family history also revealed an uncle and a grandmother, with short stature and microcephaly. Moderate mental retardation was reported in the uncle. Karyotypes and fluorescence in situ hybridization (FISH) analyses were performed on peripheral blood lymphocytes for both child and mother. The child's karyotype was reported as 46,XY,r(8)(p23q24.3)[24]/45,XY,-8[2] and the mother's karyotype 46,XX,r(8)(p23q24.3)[22]/45,XX,-8[2]/47,XX,r(8)(p23q24.3), r(8)(p23q24.3)[1]. FISH studies showed no deletion of subtelomeric sequences for both child and mother indicating that no or little chromosomal euchromatic material has been deleted. These findings indicate that ring chromosome 8 without loss of subtelomeric sequences can be inherited and that carriers in a same family present with cognitive function ranging from mild mental retardation to normal intelligence.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/14. Managing sleep disturbances in children with learning disabilities.The view that children with special needs are more likely to experience sleep disturbances is well recognised. various physical and psychological factors associated with the child's condition, as well as the influence that the child's disability has on parents' attitude and management, combine to increase the likelihood of the child developing sleep disturbances. However, these factors should not act as a barrier to trying to find successful solutions.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/14. Phobic anxiety and clumsiness in a 10-year-old girl.During assessment of a girl with a long-standing phobic state, it was found that she also had previously unrecognised perceptuo-motor problems, which were associated with continuing problems in balance and spatial awareness. Her phobia improved after a desensitisation programme, but the physical disorder persisted, despite physiotherapy. The authors conclude that the girl's phobic anxiety may have had its origin in her experience of the perceptual disorder during development.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
10/14. The second individuation process in handicapped adolescents.Blos has conceptualized adolescence as the stage when a second process of separation individuation takes place. It is assumed that maturational processes like physical and sexual development combined with higher levels of thinking play a dominant role in this process enabling the disengagement of the adolescent from the family. Various handicapping conditions may force the adolescent to stay closer to his/her family and hence interfere with the adolescent's separation-individuation. It is suggested that the nature of the interference will vary depending on whether the handicap is physical or cognitive. Both conditions appear to have differential effects on the separation individuation process. The influences of various parental attitudes are also discussed.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
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