Naomi Amir

Developmental Right-Hemisphere Syndrome Clinical Spectrum of the Nonverbal Learning Disability

We report the clinical characteristics of the developmental right-hemisphere syndrome (DRHS), a nonverbal learning disability, in 20 children (9 girls and 11 boys; mean age = 9.5 years) who also manifested attention-deficit/hyperactivity disorder (ADHD), severe graphomotor problems, and marked slowness of performance. Diagnostic criteria for this study included (a) emotional and interpersonal difficulties; (b) paralinguistic communication problems; (c) impaired visuospatial skills, verbal IQ > performance IQ, and verbal IQ · 85; and either (d) dyscalculia or (e) neurological signs on the left side of the body. In this group, verbal IQ was significantly higher than performance IQ (106.6 · 13.0 vs. 85.1 · 13.1, respectively, p < .01). Arithmetic was the lowest score among the verbal subtests (7.8 · 3.5, p < .01) and Geometrical Design was the lowest score among the performance subtests (5.8 · 1.7). Thirteen children had soft neurological signs on the left side of the body. ADHD was seen in all 20 children, marked slowness of performance in 16, and severe graphomotor problems in 18. The latter two features have not been previously described as part of DRHS.

Glutaric aciduria type I Clinical heterogeneity and neuroradiologic features

We present four patients, two pairs of siblings, with glutaric aciduria type I (GA I). All four had undetectable glutaryl-CoA dehydrogenase activity on fibroblast culture and massive urinary excretion of glutaric acid. All had serum carnitine deficiency at time of diagnosis except one patient who was diagnosed neonatally. All had a unique pattern of frontotemporal atrophy on CT. Remarkably, in both sibling pairs, one child was asymptomatic. This suggests that the biochemical markers hitherto identified with GA I do not encompass the entire scope of the metabolic or enzymatic abnormalities. Alternatively, as yet unidentified mechanisms might spare or delay the destructive process.

Glutaric aciduria type I: Enzymatic and neuroradiologic investigations of two kindreds

Two kindreds with glutaric aciduria type I were investigated. Of 20 family members who underwent neurologic examination and organic acid analysis of urine, 18 had glutaryl-coenzyme A dehydrogenase (GDH) activity determined in cultured skin fibroblasts and 12 had computed tomographic brain scans. Six homozygotes were identified who had undetectable GDH activity and identical biochemical profiles (consisting of glutaric and 3-hydroxyglutaric aciduria, reduced serum carnitine concentrations, and frontotemporal atrophy). Serial computed tomographic brain scans of one homozygous infant demonstrated the sequential postnatal development of this atrophy during 3 years before the development of clinical manifestations. In three of the six homozygotes, including the father in one kindred, there were no clinical manifestations of glutaric aciduria type I. These findings raise questions about the value of prenatal diagnosis in predicting clinical manifestations in homozygous newborn infants.

Familial intracranial arachnoid cysts

Three siblings with intracranial arachnoid cysts are described, two males and one female. One of the males has symmetric, bilateral, temporoparietal convexity cysts, and the others have singular, unilateral cysts. Three additional siblings in the family and other known relatives are clinically unaffected. As far as we know, this is the second reported case of familial intracranial arachnoid cysts and the first involving three siblings. The significance of these cysts and a review of the literature are presented.

Late-onset form of partial N-acetylglutamate synthetase deficiency.

A 13-month-old female presented with neurological deterioration of 1 month duration and hyperammonaemia. N-acetylglutamate synthetase activity in the liver was reduced to 33% of the control. A male cousin and a female sister had died following a similar clinical course. This is the first report of late-onset N-acetylglutamate synthetase deficiency. An autosomal-recessive mode of inheritance is suggested.

Oculomotor apraxia: the presenting sign of Gaucher disease.

Oculomotor apraxia may be idiopathic or a symptom of a variety of diseases. In Gaucher disease, oculomotor deficit is characterized by a failure of volitional horizontal gaze with preservation of vertical movements. We present 2 sisters, 6 1/2 and 5 1/2 years of age, in whom the presenting sign was oculomotor apraxia. Oculomotor apraxia has not been previously reported as the presenting manifestation of Gaucher disease.

Attention deficit disorder: Association with familial-genetic factors

The etiology of attention deficit disorder and hyperactivity (ADDH) is controversial because both biologic and social factors have been postulated. To study such factors, we undertook a referral study based on an entire cohort (N = 6,950) of children born in Jerusalem in 1976. Of 479 children referred for learning disabilities, hyperactivity, and behavioral problems, 381 were available for study. Information regarding obstetric, developmental, and family histories was obtained by a detailed, structured interview. A DSM-III-based questionnaire for ADDH was completed by parents and teachers. Each child underwent neurologic examination and 133 had IQ testing. Of these children, 145 fulfilled the criteria for ADDH. Our results revealed a number of significant familial-genetic factors: boys outnumbered girls by 3:1, 30% of ADDH children had siblings with learning disabilities (P less than .001); and ADDH children clustered within families of North African descent (P less than .001). The only significant developmental factor was delayed language development. Of numerous pre- and peri-natal factors investigated, only intrauterine growth retardation was significantly associated with ADDH. No correlation was found between ADDH and IQ, parental age, years of education, profession, and language spoken at home. Our study supports the hypothesis that familial-genetic factors are contributory to ADDH.

Linguistic development of a child with a congenital, localised l.h. lesion

Abstract This paper presents findings from a longitudinal, naturalistic study of knowledge of formal aspects of Hebrew grammar, in a child with a congenital, localised brain-lesion in the left hemisphere. Such knowledge assumes familiarity with aspects of language that are often independent of meaning considerations. The questions that are addressed concern the plasticity of the brain hemispheres early in life. The findings suggest that, with respect to inflectional morphology, and to certain aspects of syntax, the child was developing in a normal way, despite the massive L.H. lesion. This was interpreted as supporting the plasticity model and the “linguistic approach” to language acquisition.

Valproic acid in neonatal status convulsivus

Valproic acid infused rectally was successful in controlling seizures in two neonates who failed to respond to conventional anti-convulsive therapy. We suggest that this drug may be a useful adjuvant in difficult cases of status convulsivus in neonates.

Sleep patterns in the Lennox‐Gastaut syndrome

Serial polysomnograms were performed on 11 children with primary Lennox-Gastaut syndrome (LGS), 6 control children with other seizure disorders, and 12 who were developmentally normal. Five LGS chidren had abnormal polysomnograms with either complete absence or marked reduction of REM sleep; the other six LGS children had only a mild reduction of REM sleep. The percentage of REM in LGS children was less than in the controls with other seizure disorders (p < 0.05) or the normal children (p < 0.005). The scatter of REM percentages in LGS may imply heterogeneity of the syndrome, perhaps related to the severity of brainstem dysfunction or neurochemical derangement.