Sabine Preis

Normal intrasylvian anatomical asymmetry in children with developmental language disorder

Symmetry of posterior intrasylvian cortices (e.g., planum temporale, planum parietale) has been suggested to represent a risk factor for developmental disorders of language and reading. Using high-resolution magnetic resonance morphometry, we studied 21 right-handed children with developmental language disorder of the phonologic-syntactic type, and found normal left-right asymmetry of the planum temporale and planum parietale when compared with 21 matched controls. The planum temporale was bilaterally smaller in the affected children, a finding accounted for by their approximately 7% smaller forebrain size. Our data do not support a role of gross visible unilateral or bilateral abnormalities of posterior intrasylvian ontogenesis in this disorder.

Localisation of a gene for Papillon-Lefèvre syndrome to chromosome 11q14-q21 by homozygosity mapping.

Abstract Papillon-Lefèvre syndrome is an autosomal recessively inherited palmoplantar keratoderma of unknown aetiology associated with severe periodontitis leading to premature loss of dentition. Three consanguineous families, two of Turkish and one of German origin, and three multiplex families, one of Ethiopian and two of German origin, with 11 affected and 6 unaffected siblings in all were studied. A targeted genome search was initially attempted to several candidate gene regions but failed to demonstrate linkage. Therefore a genome-wide linkage scan using a combination of homozygosity mapping and traditional linkage analysis was undertaken. Linkage was obtained with marker D11S937 with a maximum two-point lod score of Zmax = 6.1 at recombination fraction θ = 0.00 on chromosome 11q14–q21 near the metalloproteinase gene cluster. Multipoint likelihood calculations gave a maximum lod score of 7.35 between D11S901 and D11S1358. A 9.2-cM region homozygous by descent in the affected members of the three consanguineous families lies between markers D11S1989 and D11S4176 harbouring the as yet unknown Papillon-Lefèvre syndrome gene. Haplotype analyses in all the families studied support this localisation. This study has identified a further locus harbouring a gene for palmoplantar keratoderma and one possibly involved in periodontitis.

Corpus callosum size in children with developmental language disorder.

Using high-resolution in-vivo magnetic resonance morphometry of the midsagittal area of the corpus callosum (CC) and four callosal subareas in 21 children with developmental language disorder (DLD) of the phonologic-syntactic type we found no significant anatomical differences in comparison to an age- and gender-matched normal control group. There was also no significant between-group difference when the approximately 7% smaller forebrain volume among children with DLD was accounted for by relating CC measures to forebrain volume. Only a tendency towards a larger anterior and middle CC in relation to forebrain volume was found in DLD children. In our DLD children we found the same relationship between CC midsagittal size and forebrain volume as recently reported for normal adults, namely, that the CC area increases to the two-third power of forebrain volume.

Decreased white-matter density in a left-sided fronto-temporal network in children with developmental language disorder: Evidence for anatomical anomalies in a motor-language network

The neurophysiological and neuroanatomical foundations of developmental language disorder (DLD) are still a matter of dispute. A main argument is that children with DLD show atypical anatomical asymmetries of speech-relevant brain areas, which possibly affect efficient language processing. In contrast to previous anatomical studies in DLD children, this study employed voxel based morphometry (VBM) in order to search for brain anomalies outside the classical language areas. Children with DLD (n=21) and healthy children (n=21) matched for age, sex, hand preference, and education were studied using high-resolution MRI scans. Using a new variant of the voxel-based morphometry technique (augmented VBM), the brains of children with DLD and control children were compared with respect to white matter (WM) and grey matter (GM) differences. In addition, simple hand motor tests were used to uncover possible motor impairments in DLD children. We found decreased WM volumes in a left-hemispheric network comprising the motor cortex, the dorsal premotor cortex, the ventral premotor cortex, and the planum polare on the superior temporal gyrus. In addition, DLD children exhibited motor impairments in most of the applied motor tests. These results provide strong evidence that children with DLD have anomalous anatomy in a left-sided network comprising motor and language areas. Thus, this study supports the suggestion that motor and language functions are equally impaired because the underlying anatomical underpinnings are regionally identical.

The relation between forebrain volume and midsagittal size of the corpus callosum in children.

Applying in vivo magnetic resonance (MR) morphometry in healthy adults we have recently discovered that the relationship between forebrain volume (FBV) and the midsagittal size of the corpus callosum (CC) follows a geometrical rule according to which larger brains have a relatively smaller midsagittal CC. This allometric relation was taken as support for the hypotheses of Ringo and co-workers suggesting that brain size may be an important factor influencing interhemispheric connectivity and lateralization. In this paper we examined whether the aforementioned relation between FBV and CC size also holds for healthy children between 3 and 14 years of age. We confirmed this relationship as previously found for adults. Thus, the geometrical rule and the implications associated with it apply for a wide age range. In addition we found significant correlations with age for posterior and mid-parts of the CC even when FBV was controlled for, suggesting an anterior to posterior maturation gradient of CC development.

Gait analysis by measuring ground reaction forces in children: changes to an adaptive gait pattern between the ages of one and five years

The aim of this study was to look at the maturational profile of gait parameters by measuring ground reaction forces during independent walking in children. Fifty‐four normal children aged 1 to 5 years were examined. The children walked with eight force transducers under each sole. Gait velocity and step length increased with age, whereas step frequency remained relatively constant. Phases of double ground contact expressed as percentages of the total gait cycle decreased significantly from age 1 to 5 with the steepest decrease occuring in the first year of independent walking. No asymmetry between left and right could be detected for any of these parameters. The pattern of ground reaction forces with a significant heel strike and obvious enrollment process resembling that in adults was achieved between the age of 2 and 3 years. Measuring ground reaction forces is a fast and easily manageable method of analysing gait pattern in children and is also a promising tool for detection of gait abnormalities in children with neurological disease.

Oto-palato-digital syndrome type II in two unrelated boys

We report on two boys with oto‐palato‐digital syndrome type II, characterized by growth retardation, bowed long bones, missing or hypoplastic fibulae, sclerosis of the skull base and wavy, irregular clavicles and ribs. The facial appearance is distinctive due to prominent forehead, widely spaced eyes, antimongologid slant of palpebral fissures, flattened nasal bridge and retrogenia. The mother of one patient showed a mild manifestation of oto‐palato‐digital syndrome type II. Only about 20 cases of this rare X‐linked disorder have been reported so far. The similiarities and dissimilarities to oto‐palato‐digital syndrome type I are discussed.

Gorlin-Chaudhry-Moss or Saethre-Chotzen syndrome?

We report a 2‐year‐old girl with craniosynostosis, an ossification defect of the cranial vault, midface hypoplasia, low frontal hairline, anti‐mongoloid slant of the palpebral fissures, ptosis of the lateral upper lids and high‐arched narrow palate. There are additional findings fitting the Gorlin‐Chaudhry‐Moss syndrome, such as hypoplasia of the labia majora, hypoplasia of the distal phalanges of fingers and toes and conductive hearing loss, but hypertrichosis and dental anomalies are missing, which were described in the four females previously reported with the probably autosomal recessive Gorlin‐Chaudhry‐Moss syndrome. Since the autosomal dominant Saethre‐Chotzen syndrome may show similar craniofacial features, short fingers with non‐obligatory cutaneous syndactyly, and ossification defects of the cranial vault, the Saethre‐Chotzen syndrome should also be considered in our patient.

Focal grey matter heterotopias in monozygotic twins with developmental language disorder

Abstract We describe 9-year-old monozygotic male twins with a developmental language disorder of the phonologic-syntactic type and learning difficulties. High-resolution MRI revealed bilateral parieto-temporal grey matter heterotopias in both twins, on the left more than on the right, and more pronounced in the more affected twin. This suggests a causal relationship between the heterotopias and the neuropsychological findings in this twin pair. Conclusion Neuronal migration defects and ensuing focal heterotopias may be causally related to developmental language disorders.

Monozygotic twins concordant for Rubinstein-Taybi syndrome: changing phenotype during infancy.

We describe monozygotic twin sisters concordant for Rubinstein‐Taybi syndrome diagnosed at the age of 10 weeks. The typical features of Rubinstein‐Taybi syndrome in early infancy increasingly developed towards the total “Gestalt” at the age of 2 years and 10 months.