1/13. A two-year-old boy with language regression and unusual social interactions.CASE: Jimmy, a 2 1/2-year-old boy, was seen for the first time by a new pediatrician after a recent family move. His mother made the appointment for a health supervision visit although she had concerns about his language and social skills. She stated that he spoke primarily with unintelligible sounds and often communicated by pointing with his finger. He spoke only 10 words that were clear enough to be understood. Jimmy's mother said that he could hear, but she was not sure whether he understood everything she said. Although he played at home with his 4-year-old brother, he typically played by himself when he was in the presence of other children. Jimmy's mother was asked if he had had a 2-year-old visit to a pediatrician and what the assessment was at that time. She said that his delayed development was discussed with the pediatrician, but she was reassured that he would progress during the following year. An uncomplicated full-term gestation was followed by a vaginal delivery without perinatal problems. Jimmy was a "calm" baby who was breastfed for the first 6 months of life. He sat at 7 months, pulled himself up to stand with support at approximately 9 months, and walked at 13 months. Transitions were always difficult for Jimmy; he screamed and was difficult to settle whenever cared for by someone other than his parents. He typically resists physical contact when children or adults approach him. His mother recalled that language emerged early. He acquired a significant number of words between 12 and 15 months of age. Jimmy apparently recognized letters when his parents were teaching the older sibling. At 15 months, Jimmy's language output regressed dramatically, and by 18 months, he no longer used words to communicate. Since then, he has spoken fewer than 10 single words. He mostly babbles and uses repetitions of the same sounds. The pediatrician inquired into family structure and life events at the time Jimmy lost language milestones. He was told that, at this time, the father, an engineer, changed his position in the company and began to travel extensively. Jimmy's mother thought that the absence of his father might be related to the language regression. She also noted that Jimmy seemed to have a stronger attachment for his father: "Jimmy has always been attracted to his father, and his brother seems to prefer me." The parents' marriage was strong and free of any major disharmony. During the interview, the pediatrician noted that Jimmy played persistently with his set of small trains, repetitiously lining them up in order. He was not interested in other toys that were on the floor next to him. He ran around the trains, mostly on his toes, while making unintelligible sounds. He looked away when the pediatrician called his name and became agitated when his mother attempted to redirect his attention to the examination. The pediatrician, 4 years in practice after his residency, had never seen a child with Jimmy's pattern of development. That Jimmy's development was unusual in two domains was apparent to his pediatrician from the preceding information and brief observations. He asked himself what the next steps should be.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/13. 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) |
3/13. goldenhar syndrome and autistic behaviour.Two girls with concomitant goldenhar syndrome (oculo-auriculovertebral spectrum disorder) and autistic disorder are described. One was diagnosed as having goldenhar syndrome in the first few weeks of life and as having autistic disorder in her fifth year; the other was diagnosed as having goldenhar syndrome when she was referred for evaluation of autistic symptoms at seven years of age. The type of physical abnormalities encountered in goldenhar syndrome suggests damage to neural structures in the second or late stages of the first trimester. The two cases described in this report suggest that autistic disorder sometimes can result from neural damage during the second trimester.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/13. Floating-Harbor syndrome in two sisters: autosomal recessive inheritance or germinal mosaicism?We describe the clinical histories and physical findings most compatible with the diagnosis of Floating-Harbor syndrome in two sisters. The genetic basis of the Floating-Harbor syndrome is still unclear, and family data are in favour of autosomal recessive inheritance although germinal mosaicism for an autosomal dominant gene mutation cannot be fully excluded.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/13. Discordant mental and physical efforts in an autistic patient.We investigated whether there was mental effort in response to verbal commands in a 16-year old girl with autism, a high degree of non-compliance with commands and symptoms of autonomic dysfunction by monitoring the brainstem autonomic tone during an attempt to perform isometric exercise. An index of cardiac vagal tone (CVT), cardiac sensitivity to baroreflex (CSB), heart rate (HR) and mean arterial blood pressure (MAP) were measured simultaneously. Physical non-compliance with our commands meant there was no force applied by the patient during the attempted exercise, but CVT and CSB were both reduced and sustained at very low levels throughout the attempt, while MAP and HR were increased concurrently to higher levels in the same period. This vagal withdrawal to allow concurrent increases in HR and MAP is an arousal response appropriate for isometric exercise, which is a sign of a positive mental effort to comply with our commands. These results demonstrate discordant mental and physical efforts in our patient. In this particular case, the physical inabilities in some instances could have been mislabelled as mental non-compliance due to autism. It would be worthwhile to investigate the prevalence of discordant mental and physical efforts in autism.- - - - - - - - - - ranking = 7keywords = physical (Clic here for more details about this article) |
6/13. Angelman's (happy puppet) syndrome: clinical, CT scan and serial electroencephalographic study.Of four patients having Angelman's syndrome admitted to a state mental facility who were clinically and electroencephalographically evaluated, 2 patients had CT scan studies of the brain. The most impressive and striking features that help in the diagnosis are the mental and physical retardation, nondevelopment of speech despite adequate visual and auditory function, various types of seizures, and episodic uncontrollable laughter. The CT scans of the brain did not offer any clue as to the pathogenesis. The EEGs appeared to fall into two groups: in one an arrest of electrical maturation occurred between ages 1 and 3 and in the other a slow but progressive maturation was evident.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/13. Intellectual, behavioral, and linguistic characteristics of three children with 18p- syndrome.Developmental characteristics of three girls with 18p- syndrome are described, with detailed history and results of psychological and speech/language evaluations completed at various ages. Results suggest that some children with 18p- syndrome have average abilities in selected areas, despite previous reports that these children have mild to severe mental retardation. Two of the three girls had more severe deficits in linguistic, as opposed to nonlinguistic, abilities. All had similar difficulties with speech articulation. It is suggested that children with speech/language delays who have physical features associated with this syndrome have chromosome analysis performed. It is also recommended that children identified as having 18p- syndrome be referred for comprehensive developmental assessments and remedial special education programming before a specific prognosis is determined.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/13. A child with noonan syndrome.The speech, language, and hearing characteristics of a child with noonan syndrome are described in this report. The physical characteristics of this disorder are presented. Also included is a description of a pragmatic language analysis completed to provide a description of social-linguistic communication and a basis for treatment.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/13. Developmental dyspraxia in a family with X-linked mental retardation (Renpenning syndrome).This paper describes the existence of severe developmental speech dyspraxia in a member of a family that is typical of other reports of X-linked mental retardation without physical abnormality (Renpenning syndrome). Other family members have evidence of motor or speech dyspraxia. Other reports of X-linked mental retardation have mentioned "verbal disability", which suggests that developmental dyspraxia may be quite common in these families. Developmental dyspraxia of speech is amenable to specific types of intervention: after two years of such intervention our patient's adaptive skills reflect his normal non-verbal intellectual ability, despite persistent speech deficits. This functional improvement shows how important it is to identify dyspraxia in young children, who may otherwise be labelled mentally retarded.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
10/13. Developmental language disability as a consequence of prenatal exposure to ethanol.Two pre-school-aged patients with a history of prenatal exposure to ethanol had abnormal head size and developmental delay. Both children were strikingly similar in physical appearance, behavior, and cognitive dysfunction. Facial features were typical of fetal alcohol syndrome. head circumference greater than 97th percentile without hydrocephalus and no evidence of prenatal or postnatal growth failure were unusual for ethanol teratogenicity. Each child had a similar pattern of verbal and behavioral dysfunctions characterized by (1) marked hypervigilence, (2) distractability, and (3) cognitive confusion manifested as anxiety and behavioral disorganization. It is suggested that a history of prenatal exposure to ethanol associated with (1) large head circumference, (2) facial features of fetal alcohol syndrome, and (3) early developmental delay, particularly in language acquisition, and impaired modulation of attention and arousal may represent a possible new effect of alcohol teratogenicity.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
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