Apert syndrome: skull abnormalities, brain malformations, neuropsychological evaluation and timing for surgery

THESES

APERT SYNDROME: SKULL ABNORMALITIES, BRAIN MALFORMATIONS, NEUROPSYCHOLOGICAL EVALUATION AND TIMING FOR SURGERY (ABSTRACT)^*. THESIS. SÃO PAULO, 2002.

A YACUBIAN-FERNANDES^**

The Apert syndrome corresponds to the acrocephalosyndactyly type I, and it is characterized by craniosynostosis with fusion of any suture of the cranium and/or of the skull base, associated with midface hypoplasia, symmetric syndactyly of the hands and feet and other systemic malformations. Most frequently the abnormal fusion occurs in the coronal sutures. Mental retardation is considered usual for patients with Apert syndrome and may be due to brain malformations, high intracranial pressure or family environment.

The objectives of this present study are: to summarize the brain malformations observed in magnetic resonance images; and detect the bone abnormalities of the cranium and the skull base observed in the helical tomography images of the patients with Apert syndrome; to analyze the changes in the disposal of the brain structures after surgery; to correlate these findings with the neuropsychological evaluation. We also tried to determine other relevant aspects involved in the cognitive development of these patients such as social classification of the families, parents' education and the timing for surgery. The relevance of the mental development of the patient to his/her family's quality of life was also analyzed.

In the present study, 18 patients with Apert syndrome were thoroughly studied based on protocols previously completed. In February of 2001 the age of the patients was between 14 and 322 months. The evaluation of the patients was done by an interdisciplinary team. The image studies included helical tomography with three-dimensional reconstruction of the skull and they showed short anterior cranial fossa in seven patients and deep medial and posterior cranial fossa in all cases. Using the magnetic resonance images of the brain, ventriculomegaly was observed in five cases, hypoplasia of corpus callosum in five cases, hypoplasia of septu pellucidum in five cases, cavum Vergae in two cases and arachnoid cyst of the posterior fossa in two cases.

Forty-four percent of the patients did not present any brain abnormalities. Morphologic measurements of the corpus callosum were established and showed values between 0.4409 and 1.0237. There were statistical correlation of these data with the results of the surgery (p = 0.012; t = 2.83). The social analysis of the families showed that 12 of then were of low-income and 6 were of middle-income. The intelligence quotient or developmental quotient was obtained with each neuropsychological evaluation and the values observed were between 45 and 108 (average = 74). The quotients were unsatisfactory (below 70) in 4 patients. A short form of the Questionnaire on Resources and Stress was used to analyze the quality of life of the patients and their families. In this questionnaire factor II - "Pessimism" was the most frequent factor observed. On the other hand, the intelligence quotient of the patients was directly correlated to the factor I - "Parent and Family Problems" (p = 0.036, r = -0.497) and to the factor III - "Child Characteristics" (p = 0.017, r =-0.556). The mental development was also related to the quality of the family environment (p = 0.009; r = 0.595) and parents' education (p = 0.035; r = 0.499). The mental development was not correlated to brain malformation (Fisher; p = 0.068) or age at the time of operation (p = 0.296; r = -0.329).

In conclusion, morphologic measurements of the corpus callosum are evidence of changes in the disposal of the brain structures after surgery. Quality of the family environment was the most significant factor directly involved in the mental development of the patients with Apert syndrome and this is relevant to determine the quality of life of these families.

KEY WORDS: Apert syndrome, surgical approach timing.

**Address: Divisão de Neurologia, Hospital das Clínicas FMUSP, Avenida Enéas Carvalho Aguiar 255, 05403/100 São Paulo SP, Brasil.

*

Síndrome de Apert: correlação entre as alterações cranianas e encefálicas, avaliação neuropsicológica e momento cirúrgico (Resumo). Tese (Doutorado), Universidade de São Paulo (Área: Neurologia). Orientador: José Píndaro Pereira Plese.

Publication Dates

• Publication in this collection
  10 Sept 2002
• Date of issue
  Sept 2002