First the nose, last the eyes in congenital prosopagnosia: Look like your father looks.

OBJECTIVE: To contribute to the limited body of eye movement (EM) studies of children and family members with congenital prosopagnosia (CP), a task requiring a verbal response for the identification of personally familiar faces was used for the 1st time. METHOD: EMs were recorded in a father and his son (both diagnosed with CP) and controls (N = 2). In the identification tasks they watched personally familiar faces and distracters and responded by saying the names of the familiar faces or saying "I don't know." Two discrimination tasks were added to distinguish the specificity of the EM pattern for the recognition tasks. In all tasks, faces were presented 1 by 1 until the response onset; thus, the EM pattern was not saturated by overexposure to the stimulus. The 1st fixation position was examined to localize the 1st area of the face attended to. The spatial-temporal fixation pattern was examined to evaluate the attention devoted to specific regions. RESULTS: Both family members were inaccurate and slower than controls in the identification but not the discrimination tasks. In all tasks, they made a number of fixations comparable to those of controls but showed longer fixation durations than controls did. In the identification tasks, they showed poor spatial-temporal distribution of fixations on the eyes and rare 1st fixations on the eyes. CONCLUSIONS: Consistent with the literature, both family members showed the typical reduced sampling of the eyes. Nevertheless, our protocol based on explicit verbal responses (which included EM only until response onset) showed that they did not increase the spatial sampling overall by making more fixations than controls did. Instead, they showed longer fixation durations across tasks; this was interpreted as a generalized problem with face processing in affording a more robust sampling of information. (PsycINFO Database Record (c) 2019 APA, all rights reserved).

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.

Incontinentia pigmenti: learning disabilities are a fundamental hallmark of the disease.

Studies suggest that genetic factors are associated with the etiology of learning disabilities. Incontinentia Pigmenti (IP, OMIM#308300), which is caused by mutations of the IKBKG/NEMO gene, is a rare X-linked genomic disorder (1:10000/20:000) that affects the neuroectodermal tissues. It always affects the skin and sometimes the hair, teeth, nails, eyes and central nervous system (CNS). Data from IP patients demonstrate the heterogeneity of the clinical phenotype; about 30% have CNS manifestations. This extreme variability suggests that IP patients might also have learning disabilities. However, no studies in the literature have evaluated the cognitive profile of IP patients. In fact, the learning disability may go unnoticed in general neurological analyses, which focus on major disabling manifestations of the CNS. Here, we investigated the neuropsychological outcomes of a selected group of IP-patients by focusing on learning disabilities. We enrolled 10 women with IP (7 without mental retardation and 3 with mild to severe mental retardation) whose clinical diagnosis had been confirmed by the presence of a recurrent deletion in the IKBKG/NEMO gene. The participants were recruited from the Italian patients' association (I.P.A.SS.I. Onlus). They were submitted to a cognitive assessment that included the Wechsler Adult Intelligence scale and a battery of tests examining reading, arithmetic and writing skills. We found that 7 patients had deficits in calculation/arithmetic reasoning and reading but not writing skills; the remaining 3 had severe to mild intellectual disabilities. Results of this comprehensive evaluation of the molecular and psychoneurological aspects of IP make it possible to place "learning disabilities" among the CNS manifestations of the disease and suggest that the IKBKG/NEMO gene is a genetic determinant of this CNS defect. Our findings indicate the importance of an appropriate psychoneurological evaluation of IP patients, which includes early assessment of learning abilities, to prevent the onset of this deficit.

Narrative discourse and sociocognitive abilities of a child with Cri-du-Chat syndrome.

The authors investigated narrative competence, sociocognitive abilities and emotion comprehension in a 9-year-old child (FS) with Cri-du-Chat Syndrome (CdCS) who had only a mild mental delay and relatively preserved language. Considering that the production of narratives is a major step in development and in the acquisition of learning skills related to conceptual, linguistic, structural, and pragmatic knowledge, and in the development of psychological lexicon, that is, the ability to use theory of mind (ToM) processes also in atypical development, this case provided an opportunity to study aspects of this genetic syndrome never investigated before. The authors found that the child's performance on different stories was comparable to that of chronological age controls for several narrative and emotional competences and even better than that of mental age controls. However, her ability to reason was still incomplete according ToM; in fact, FS was able to express her mental states, but she was unable to understand emotions, specifically mixed emotions. This finding suggests that in CdCS children with a well-developed language narrative and emotional competence could be a point of strength for improving their social skills with important effects on their familiar and school life. Also in CdCS children with the typical poor developed language, the narrative discourse could be introduced in their communication by means of any type of alternative language (i.e., sign language or augmentative and alternative communication) to improve their social abilities and to reduce behavioral disorders due to the difficulty in expressing their personal experiences.

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.

Language disorder in a child with early left thalamic lesion.

In this paper we present the case of a child with early left thalamic vascular damage who subsequently developed a language disorder. At 3 years and 8 months, her language was poor and unintelligible and showed phonetic, phonological and morpho-syntactic disorders. She did not exhibit any signs of mental retardation. After specific speech therapy, she improved in all linguistic skills. Given the lack of reports on thalamic lesions in children, this paper describes the effect of a thalamic injury in the earliest phases of language acquisition in a child who showed consistent phonological disorders. This case seems to confirm early hemispheric specialisation and the importance of a timely therapy.