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[Cognitive and psychological profiles in dysmorphic syndromes]
1INPE Università di Pisa, IRCCS Stella Maris, Calambrone, Italia.
Insights
This study analyzed cognitive and psychological profiles in 83 children with congenital malformation syndromes. Most patients exhibited cognitive deficits, with varied linguistic and practo-gnosic impairments, impacting personality structures.
Area of Science:
- Medical Genetics
- Neuropsychology
- Developmental Pediatrics
Context:
- Congenital malformation syndromes present diverse challenges for child neuropsychiatrists.
- Parents seek information on cognitive and psychological prognoses for affected children.
- Recent attention on recognizable malformation patterns due to declining infectious diseases.
Purpose:
- To investigate the cognitive and psychological profiles of patients with specific malformation syndromes.
- To identify patterns of cognitive deficits, linguistic impairments, and practo-gnosic difficulties.
- To characterize personality structures and communicative abilities in these patient groups.
Summary:
- Eighty-three patients with Sotos, Williams, Cohen, Cornelia De Lange, and Rubinstein-Taybi syndromes were studied.
- 70/83 patients displayed cognitive deficits, ranging from mild-moderate to moderate-severe.
- Linguistic deficits were noted in Sotos, Cornelia De Lange, and Rubinstein-Taybi syndromes; practo-gnosic deficits in Williams and Cohen syndromes.
- Personality profiles showed immaturity and anxiety, with distinct neurotic traits in Williams syndrome patients.
- All patients demonstrated good communicative abilities despite other deficits.
Impact:
- Provides crucial data for understanding the neuropsychological outcomes of specific congenital malformation syndromes.
- Informs clinical practice regarding diagnosis, intervention, and parental counseling.
- Highlights the heterogeneity of cognitive and psychological profiles within these syndromes, aiding targeted support.
Abstract:
The recognizable patterns of human malformations have recently received much attention, particularly because of the decline of other diseases. Patients with a congenital malformation syndrome come to the Child Neuropsychiatrist for various reasons, such as: mental retardation of variable degree, learning disabilities, speech delay or absence of speech, behaviour disorders, various neurological impairment. Parents, however, seem to be mainly concerned about the prognosis of cognitive and psychological aspects. We have studied 83 patients with a specific pattern of malformations (35 affected by the Sotos syndrome; 25 by the Williams syndrome; 9 by the Cohen syndrome; 8 by the Cornelia De Lange syndrome; 6 by the Rubinstein-Taybi syndrome) and have particularly investigated their cognitive and psychological profiles. 13/83 showed a normal cognitive level (9 Sotos syndrome; 4 Williams syndrome), while 70/83 showed a cognitive deficit ranging from mild-moderate (56 cases) to moderate-severe (14 cases). Linguistic deficits are prominent in the Sotos, Cornelia De Lange, and Rubinstein-Taybi patients, while practo-gnosic deficits are frequent in the Williams and particularly in the Cohen syndrome patients. The personality structure is characterized by immaturity and anxiety in all but the Williams syndrome patients, where some peculiar neurotic traits may be observed. All patients showed good communicative abilities.