Evidence of taxonomy for developmental topographical disorientation: developmental landmark agnosia case 1

We report Developmental Landmark Agnosia (DLA) in a 6-year-old boy (L.G.) who was referred to us for congenital prosopagnosia (see Pizzamiglio et al., 2017, in which both testing and rehabilitation of Congenital Prosopagnosia are reported). We investigated his performance using a neuropsychological battery and eye movement recordings. The assessment showed the presence of deficits in recognizing familiar places (along with Congenital Prosopagnosia), but not common objects. Eye movement recordings confirmed his problems in recognizing familiar landmarks and misrecognition of unfamiliar places. L.G. is the first evidence of a DLA, suggesting identification of taxonomy of navigational disorders in Developmental Topographical Disorientation is possible, as in the Acquired Topographical Disorientation

Visual-motor coordination computerized training improves the visuo-spatial performance in a child affected by Cri-du-Chat syndrome

The present study reports on the effects of an experimental computerized training specifically conceived for improving visual-motor coordination in a child (L.D.J.) affected by Cri-du-Chat syndrome. The child was asked to touch a picture on the screen with a coordinated hand movement to obtain the appearance of a new picture. The training was organized into four levels of increasing difficulty, which were progressively administered in different sessions. Response times and number of errors were collected at each session. The child improved in performing computerized training, becoming faster and more accurate. Unlike control participants, she also improved in performing untrained tasks, which implied similar skills. Repercussions on L.D.J.'s autonomy and communication skills in daily life are described.The present study reports on the effects of an experimental computerized training specifically conceived for improving visual-motor coordination in a child (L.D.J.) affected by Cri-du-Chat syndrome. The child was asked to touch a picture on the screen with a coordinated hand movement to obtain the appearance of a new picture. The training was organized into four levels of increasing difficulty, which were progressively administered in different sessions. Response times and number of errors were collected at each session. The child improved in performing computerized training, becoming faster and more accurate. Unlike control participants, she also improved in performing untrained tasks, which implied similar skills. Repercussions on L.D.J.'s autonomy and communication skills in daily life are described

Congenital prosopagnosia in a child: neuropsychological assessment, eye movement recordings and training

Here we report the assessment and treatment of a 6-year-old boy (L.G.) who was referred to us for congenital prosopagnosia (CP). We investigated his performance using a test battery and eye movement recordings pre- and post-training. L.G. showed deficits in recognising relatives and learning new faces, and misrecognition of unfamiliar people. Eye movement recordings showed that L.G. focused on the lower part of stimuli in naming tasks based on familiar or unfamiliar incomplete or complete faces. The training focused on improving his ability to explore internal features of faces, to discriminate specific facial features of familiar and unfamiliar faces, and to provide his family with strategies to use in the future. At the end of the training programme L.G. no longer failed to recognise close and distant relatives and classmates and did not falsely recognise unknown people

Cognitive-behavioural phenotype in a group of girls from 1.2 to 12 years old with the Incontinentia Pigmenti syndrome: recommendations for clinical management

Incontinentia Pigmenti (IP, OMIM#308300) is a rare X-linked genomic disorder (about 1,400 cases) that affects the neuroectodermal tissue and Central Nervous System (CNS). The objective of this study was to describe the cognitive-behavioural profile in children in order to plan a clinical intervention to improve their quality of life. A total of 14 girls (age range: from 1 year and 2 months to 12 years and 10 months) with IP and the IKBKG/NEMO gene deletion were submitted to a cognitive assessment including intelligence scales, language and visuo-spatial competence tests, learning ability tests, and a behavioural assessment. Five girls had severe to mild intellectual deficiencies and the remaining nine had a normal neurodevelopment. Four girls were of school age and two of these showed no intellectual disability, but had specific disabilities in calculation and arithmetic reasoning. This is the first description of the cognitive-behavioural profile in relation to developmental age. We stress the importance of an early assessment of learning abilities in individuals with IP without intellectual deficiencies to prevent the onset of any such deficit

Clinical manifestations in 10 female patients with IP: Clinical score analysis.

<p>The score represents the number of clinical manifestations in each organ system.</p><p>Skin defects include: vesicles, pustules, hyperkeratotic lesions, pigmented spots, and hypopigmentation.</p><p>Ocular defects include: refractive errors; nystagmus, strabismus, optic atrophy, and iris pigmentary abnormalities.</p><p>Dental defects include: partial anodontia, dental dystrophy, dental pulp defects, cone/peg shaped teeth, malocclusion, and gingival defects.</p><p>Hair defects include: hair atrophy, alopecia, and wooly hair naevus.</p><p>Nail defects include: ungual dystrophy.</p><p>CNS (central nervous system) defects include: ischemia, seizures, and cerebral atrophy.</p><p>Other defects include: congenital clubfoot, frequent infections, vascular diseases, cranial asymmetry, and breast atrophy.</p

Performance scores of seven educated IP participants with IQs above 70 on reading, writing and mathematics tests.

<p>*<b>pathological performance;</b> # borderline performance; np  =  test not performed.</p><p>Scores for learning abilities are z-scores; pathological performances are defined in accordance with the normative data of the tests.</p

Correlation between WAIS-R scales, learning tests and number of IP symptoms.

<p>The numbers in the table indicate Pearson's correlation coefficients (r).</p><p>*p<0.05;</p><p>**p<0.01 FSIQ: Full scale IQ; VIQ: Verbal IQ; PIQ: Performance IQ.</p