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Angelman syndrome (AS) is a rare neurogenetic disorder caused by altered expression of the maternal copy of the UBE3A gene. Together with motor, cognitive, and speech impairment, ophthalmological findings including strabismus, and ocular fundus hypopigmentation characterize the clinical phenotype. The aim of this study was to detail the neurovisual profile of children affected by AS and to explore any possible genotype-phenotype correlations.Thirty-seven children (23 females, mean age 102.8 ± 54.4 months, age range 22 to 251 months) with molecular confirmed diagnosis of AS were enrolled in the study. All underwent a comprehensive video-recorded neurovisual evaluation including the assessment of ophthalmological aspects, oculomotor functions, and basic visual abilities.All children had visual impairments mainly characterized by refractive errors, ocular fundus changes, strabismus, discontinuous/jerky smooth pursuit and altered saccadic movements, and/or reduced visual acuity. Comparing the neurovisual profiles between the deletion and non-deletion genetic subgroups, we found a significant statistical correlation between genotype and ocular fundus hypopigmentation (p = 0.03), discontinuous smooth pursuit (p 0.05), and contrast sensitivity abnormalities (p 0.01) being more frequent in the deletion subgroup.Subjects affected by AS present a wide spectrum of neurovisual impairments that lead to a clinical profile consistent with cerebral visual impairment (CVI). Moreover, subjects with a chromosome deletion show a more severe visual phenotype with respect to ocular fundus changes, smooth pursuit movements, and contrast sensitivity. Early detection of these impaired visual functions may help promote the introduction of neurovisual habilitative programs which can improve children's visual, neuromotor, and cognitive outcomes.

Objective: This study set out to describe sleep patterns in visually impaired (VI) children during the first 40 months of life compared to typically developing children. We also evaluated the influence of age, sex and the presence of other disabilities on sleep patterns. Patients and methods: A sleep questionnaire was administered to 154 parents of 10- to 39-month-old children: 36 with visual impairment without associated disability; 68 with visual impairment and associated disabilities (cortical visual impairment); and 50 healthy controls. The groups were balanced by age and gender. The questionnaire was developed at the C. Mondino Institute of Neurology in Pavia, Italy with the aim of investigating sleep patterns and medical history. Results: Within the VI sample, sleep behaviour was not related to the presence of associated disabilities. Visually impaired children had higher sleep disturbance scores than healthy controls using the Richman Criteria. VI children took longer to fall asleep, and their nocturnal awakenings were longer, more frequent per night, and affected more nights per week compared to the controls. Conclusions: The results of this study show that the sleep of VI children is characterized by increased difficulty in falling asleep and in sleeping through the night, compared with that of their healthy peers. These findings confirm those of other important studies on sleep in VI children and underline the importance of evaluating and taking into account sleep-wake cycle in the care of the VI child.

We set out to define visuo-perceptual impairment related to periventricular leukomalacia (PVL) using the Developmental Test of Visual Perception (DTVP). Correlations were sought between visual-perceptual deficits and DTVP profile and neuroradiological and neurophthalmological findings. The DTVP was administered to 20 children (m/f: 10/10), aged between 5 and 8 years (mean: 6.95 years), presenting with: spastic diplegia; PVL documented by brain MRI; normal or mildly impaired visual acuity; mild-moderate upper limb functional impairment. The mean General Visual-Perceptual Quotient was impaired, showing a great variability among the patients. Despite this, an uneven DTPV profile, characterised by a significant difference between the VMIQ and the Non-Motor Visual-Perceptual Quotient (P < 0.001) and a poor result on the Closure subtest (identification of whole figures from incomplete visual information) was observed in all the subjects. This profile reflects a deficit in eye-hand coordination and in praxic-constructional abilities and could be the expression of malfunctioning of the occipital-parietal pathway of visual integration, the so-called 'dorsal stream,' a hypothesis reinforced by the emergence of a statistically significant correlation between the neuroradiological data and the presence of visual-perceptual impairment.

Stereotyped behaviours occur frequently in blind children. Most authors attribute stereotyped mannerisms to factors such as hospitalisation, motor limitations, and reduced capacity for exploration. There seems to be a specific association between blindness and behavioural mannerisms, such as eye pressing and eye poking, which have been observed in children with peripheral blindness. We studied the prevalence of stereotyped motor behaviours in a sample of congenitally blind children with and without other neurodevelopmental disabilities in order to assess the types and features of such stereotyped behavioural traits. Twenty-six congenitally blind children (11 male and 15 female) were assessed through videotape recording and through a questionnaire focusing on the type, frequency, form of manifestation and duration of the children's stereotyped behaviours. Stereotyped behavioural traits were observed in 19 (73%) of the patients. Stereotyped behaviours most frequently observed were body rocking (8; 30.7%), repetitive handling of objects (8; 30.7%), hand and finger movements (7; 26.9%), eye pressing and eye poking (8; 30.7%), and lying face downwards (6; 22.8%) and jumping (3; 11.4%). We found that a reduction in stereotyped behavioural traits could be obtained by stimulating appropriate adaptive behaviour in children, while these behaviours were increased by restricted environmental conditions, reduced sensory stimulation and reduced motility.

A new case of ring chromosome 9 in a 36-month-old child is presented. In addition to the pathognomonic features of this rare disorder (only 21 cases reported), our patient presents some peculiarities, such as corpus callosum hypoplasia and epileptic seizures (infantile periodic spasms). We also observed a reduced level of leukocyte interferon α whose synthesis is controlled by a gene on chromosome 9 and which could be responsible for the recurrent respiratory tract infections, typical and sometimes fatal in these patients.