Profiling Cognitive and Social Functioning in a Small Cohort with Malan Syndrome.

Area of Science:

• Neurogenetics
• Developmental Neuroscience
• Cognitive Psychology

Background:

• Malan syndrome (MALNS) is an ultra-rare genetic disorder linked to NFIX gene aberrations.
• Key features include overgrowth, distinct facial features, skeletal issues, speech and intellectual disability.
• MALNS often involves autism-like behaviors and social difficulties, necessitating cognitive profile characterization.

Purpose of the Study:

• To characterize the cognitive profile of individuals with Malan syndrome.
• To investigate social perception skills within the cognitive framework of MALNS.
• To provide insights for clinical practice and rehabilitation strategies.

Main Methods:

• A neuropsychological battery was administered to six children and adolescents diagnosed with MALNS.
• The assessment covered multiple cognitive domains, building on previous clinical and behavioral descriptions.
• Data were analyzed at both group and individual levels.

Main Results:

• Participants generally exhibited lower performance across most neuropsychological subtests, consistent with intellectual disability.
• Relative strengths were observed in facial memory, visual attention, and non-verbal (contextual) theory of mind.
• Weaknesses were consistently found in verbal reasoning, language comprehension, and verbal theory of mind tasks.

Conclusions:

• This study offers a more detailed characterization of cognitive and social functioning in Malan syndrome.
• Findings highlight specific cognitive strengths and weaknesses relevant to MALNS.
• The results can guide future research, clinical interventions, and rehabilitation programs for MALNS patients.