Prelinguistic intersubjective and socio-communicative skills in infants with neurodevelopmental disabilities aged 0-36 months: A new assessment and parent support tool.

Background: Although children with neurodevelopmental disability (NDD) present with several deficits, they partially share developmental impairments in prelinguistic intersubjective and socio-communicative skills, which are not easily assessed by conventional tests during the first years of life.

Aim: The current paper presents a new procedure to assess the prelinguistic intersubjective and socio-communicative skills of NDD children aged 0-36 months. A specific observation form template, called the Observation of Prelinguistic Intersubjective and Socio-Communicative Skills (OPISCoS) form, has been designed to systematically detect infant skills during daily routines (e.

Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.

Background: Monoallelic variants in the KIF1A gene are associated with a large set of clinical phenotypes including neurodevelopmental and neurodegenerative disorders, underpinned by a broad spectrum of central and peripheral nervous system involvement.

Methods: In a multicenter study conducted in patients presenting spastic gait or complex neurodevelopmental disorders, we analyzed the clinical, genetic and neuroradiological features of 28 index cases harboring heterozygous variants in KIF1A. We conducted a literature systematic review with the aim to comparing our findings with previously reported KIF1A-related phenotypes.

Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.

Complicated hereditary spastic paraplegias (HSP) are a heterogeneous group of HSP characterized by spasticity associated with a variable combination of neurologic and extra-neurologic signs and symptoms. Among them, HSP with thin corpus callosum and intellectual disability is a frequent subtype, often inherited as a recessive trait (ARHSP-TCC). Within this heterogeneous subgroup, SPG11 and SPG15 represent the most frequent subtypes.

The effect of frequency of cerebral palsy treatment: a matched-pair pilot study.

The feasibility and effectiveness of a year-long integrated rehabilitation program for young children (less than 6 years old) with cerebral palsy was evaluated, and efficacy of different treatment schedules was compared. A sample of 40 children (20 male; mean age, 3 years +/-1.22) took part: 20 presented with tetraparesis, 12 with diparesis, and 8 with hemiparesis.