Prognosis for mental function in Apert's syndrome

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  • 1 Craniofacial Surgery Unit, Department of Pediatric Neurosurgery, and Department of Pediatric Radiology, Hôpital Necker Enfants—Malades, Paris, France
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✓ The factors involved in the mental development of patients with Apert's syndrome were studied by the authors, focusing on the age of the patient at operation, associated brain malformations, and the quality of the family environment. Overall, 32% of patients with significant follow-up review had an intelligence quotient (IQ) greater than 70. Age at operation appeared to be the main factor associated with changes in mental development: final IQ was greater than 70 in 50% of patients operated on before 1 year of age versus only 7.1% in patients operated on later in life (p = 0.01). Malformations of the corpus callosum and size of the ventricles played no role in the final IQ, whereas anomalies of the septum pellucidum had a significant effect, with the proportion of patients with an IQ over 70 increasing more than twofold in patients with a normal septum compared with patients with septal anomalies (p < 0.04). Quality of the family environment was the third factor involved in intellectual achievement: only 12.5% of institutionalized children reached a normal IQ level compared to 39.3% of children from a normal family background.

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Contributor Notes

Address reprint requests to: Dominique Renier, M.D., Service de Neurochirurgie, Hôpital Necker Enfants—Malades, 149 rue de Sèvres, 75743 Paris cedex 15, France.
  • 1.

    Apert E: De l'acrocéphalosyndactylie. Bull et Mem Soc Med Hop 23:13101330, 1906 Apert E: De l'acrocéphalosyndactylie. Bull et Mem Soc Med Hop 23:1310–1330, 1906

    • Search Google Scholar
    • Export Citation
  • 2.

    Belfer ML, , Harrison AM, & Pillemer FC, et al. : Appearance and the influence of reconstructive surgery on body image. Clin Plast Surg 9:307315, 1982 Belfer ML, Harrison AM, Pillemer FC, et al: Appearance and the influence of reconstructive surgery on body image. Clin Plast Surg 9:307–315, 1982

    • Search Google Scholar
    • Export Citation
  • 3.

    Bergstrom L, , Neblett LM, & Hemenway WG: Otologic manifestations of acrocephalosyndactyly. Arch Otolaryngol 96:117123, 1972 Bergstrom L, Neblett LM, Hemenway WG: Otologic manifestations of acrocephalosyndactyly. Arch Otolaryngol 96:117–123, 1972

    • Search Google Scholar
    • Export Citation
  • 4.

    Blank CE: Apert's syndrome (a type of acrocephalosyndactyly)—observations on a British series of thirty-nine cases. Ann Hum Genet Lond 24:151164, 1960 Blank CE: Apert's syndrome (a type of acrocephalosyndactyly)—observations on a British series of thirty-nine cases. Ann Hum Genet Lond 24:151–164, 1960

    • Search Google Scholar
    • Export Citation
  • 5.

    Bodensteiner JB, & Schaefer GB: Wide cavum septum pellucidum: a marker of disturbed brain development. Pediatr Neurol 6:391394, 1990 Bodensteiner JB, Schaefer GB: Wide cavum septum pellucidum: a marker of disturbed brain development. Pediatr Neurol 6:391–394, 1990

    • Search Google Scholar
    • Export Citation
  • 6.

    Breeding LM, , Bodensteiner JB, & Cowan L, et al. : The cavum septi pellucidi. A magnetic resonance imaging study of prevalence and clinical associations in a pediatric population. J Neuroimag 1:115118, 1991 Breeding LM, Bodensteiner JB, Cowan L, et al: The cavum septi pellucidi. A magnetic resonance imaging study of prevalence and clinical associations in a pediatric population. J Neuroimag 1:115–118, 1991

    • Search Google Scholar
    • Export Citation
  • 7.

    Campis LB: Children with Apert syndrome: developmental and psychologic considerations. Clin Plast Surg 18:409416, 1991 Campis LB: Children with Apert syndrome: developmental and psychologic considerations. Clin Plast Surg 18:409–416, 1991

    • Search Google Scholar
    • Export Citation
  • 8.

    Cinalli G, , Renier D, & Sebag G, et al. : Chronic tonsillar herniation in Crouzon's and Apert's syndromes: the role of premature synostosis of the lambdoid suture. J Neurosurg 83:575582, 1995 Cinalli G, Renier D, Sebag G, et al: Chronic tonsillar herniation in Crouzon's and Apert's syndromes: the role of premature synostosis of the lambdoid suture. J Neurosurg 83:575–582, 1995

    • Search Google Scholar
    • Export Citation
  • 9.

    Cohen MM Jr, & Kreiborg S: The central nervous system in the Apert syndrome. Am J Med Genet 35:3645, 1990 Cohen MM Jr, Kreiborg S: The central nervous system in the Apert syndrome. Am J Med Genet 35:36–45, 1990

    • Search Google Scholar
    • Export Citation
  • 10.

    Cohen MM Jr, & Kreiborg S: Cranial size and configuration in the Apert syndrome. J Craniofac Genet Dev Biol 14:153162, 1994 Cohen MM Jr, Kreiborg S: Cranial size and configuration in the Apert syndrome. J Craniofac Genet Dev Biol 14:153–162, 1994

    • Search Google Scholar
    • Export Citation
  • 11.

    Cohen MM Jr, & Kreiborg S: Upper and lower airway compromise in the Apert syndrome. Am J Med Genet 44:9093, 1992 Cohen MM Jr, Kreiborg S: Upper and lower airway compromise in the Apert syndrome. Am J Med Genet 44:90–93, 1992

    • Search Google Scholar
    • Export Citation
  • 12.

    Cohen MM Jr, , Kreiborg S, & Lammer EJ, et al. : Birth prevalence study of the Apert syndrome. Am J Med Genet 42:655659, 1992 Cohen MM Jr, Kreiborg S, Lammer EJ, et al: Birth prevalence study of the Apert syndrome. Am J Med Genet 42:655–659, 1992

    • Search Google Scholar
    • Export Citation
  • 13.

    De Léon GA, , De Léon G, & Grover WD, et al. : Agenesis of the corpus callosum and limbic malformation in Apert syndrome (type I acrocephalosyndactyly). Arch Neurol 44:979982, 1987 De Léon GA, De Léon G, Grover WD, et al: Agenesis of the corpus callosum and limbic malformation in Apert syndrome (type I acrocephalosyndactyly). Arch Neurol 44:979–982, 1987

    • Search Google Scholar
    • Export Citation
  • 14.

    Dunn FH: Apert's acrocephalosyndactylism. Radiology 78:738742, 1962 Dunn FH: Apert's acrocephalosyndactylism. Radiology 78:738–742, 1962

    • Search Google Scholar
    • Export Citation
  • 15.

    Fishman MA, , Hogan GR, & Dodge PR: The concurrence of hydrocephalus and craniosynostosis. J Neurosurg 34:621629, 1971 Fishman MA, Hogan GR, Dodge PR: The concurrence of hydrocephalus and craniosynostosis. J Neurosurg 34:621–629, 1971

    • Search Google Scholar
    • Export Citation
  • 16.

    Galli ML: Apert syndrome does not equal mental retardation. J Pediatr 89:691, 1976 (Letter) Galli ML: Apert syndrome does not equal mental retardation. J Pediatr 89:691, 1976 (Letter)

    • Search Google Scholar
    • Export Citation
  • 17.

    Gould HJ, & Caldarelli DD: Hearing and otopathology in Apert syndrome. Arch Otolaryngol 108:347349, 1982 Gould HJ, Caldarelli DD: Hearing and otopathology in Apert syndrome. Arch Otolaryngol 108:347–349, 1982

    • Search Google Scholar
    • Export Citation
  • 18.

    Hogan GR, & Bauman ML: Hydrocephalus in Apert's syndrome. J Pediatr 79:782787, 1971 Hogan GR, Bauman ML: Hydrocephalus in Apert's syndrome. J Pediatr 79:782–787, 1971

    • Search Google Scholar
    • Export Citation
  • 19.

    Humphreys RP: Diagnosis and treatment of craniostenosis and intracranial anomalies. Clin Plast Surg 18:231235, 1991 Humphreys RP: Diagnosis and treatment of craniostenosis and intracranial anomalies. Clin Plast Surg 18:231–235, 1991

    • Search Google Scholar
    • Export Citation
  • 20.

    Kaplan LC: Clinical assessment and multispecialty management of Apert syndrome. Clin Plast Surg 18:217225, 1991 Kaplan LC: Clinical assessment and multispecialty management of Apert syndrome. Clin Plast Surg 18:217–225, 1991

    • Search Google Scholar
    • Export Citation
  • 21.

    Laitinen L: Craniosynostosis, premature fusion of the cranial sutures. Ann Paed Fenn 2 (Suppl 6 Vol 2):93, 1956 Laitinen L: Craniosynostosis, premature fusion of the cranial sutures. Ann Paed Fenn 2 (Suppl 6 Vol 2):93, 1956

    • Search Google Scholar
    • Export Citation
  • 22.

    Lajeunie E, , Le Merrer M, & Bonaïti-Pellie C, et al. : A genetic study of nonsyndromic coronal craniosynostosis. Am J Med Genet 55:500504, 1995 Lajeunie E, Le Merrer M, Bonaïti-Pellie C, et al: A genetic study of nonsyndromic coronal craniosynostosis. Am J Med Genet 55:500–504, 1995

    • Search Google Scholar
    • Export Citation
  • 23.

    Lefebvre A, , Travis F, & Arndt EM, et al. : A psychiatric profile before and after reconstructive surgery in children with Apert's syndrome. Br J Plast Surg 39:510513, 1986 Lefebvre A, Travis F, Arndt EM, et al : A psychiatric profile before and after reconstructive surgery in children with Apert's syndrome. Br J Plast Surg 39:510–513, 1986

    • Search Google Scholar
    • Export Citation
  • 24.

    Loeser JD, & Alvord EC Jr: Agenesis of the corpus callosum. Brain 91:553570, 1968 Loeser JD, Alvord EC Jr: Agenesis of the corpus callosum. Brain 91:553–570, 1968

    • Search Google Scholar
    • Export Citation
  • 25.

    Magnan, & Galippe: Accumulation de stigmates physique chez un débile. Brachycéphalie, plagiocéphalie, acrocéphalie, asymétrie faciale, atrésie buccale, syndactylie des quatre extrémités. Compte-rendus Hebdomadaires des Séances et Mémoires de la Société de Biologie 4:277287, 1892 Magnan, Galippe: Accumulation de stigmates physique chez un débile. Brachycéphalie, plagiocéphalie, acrocéphalie, asymétrie faciale, atrésie buccale, syndactylie des quatre extrémités. Compte-rendus Hebdomadaires des Séances et Mémoires de la Société de Biologie 4:277–287, 1892

    • Search Google Scholar
    • Export Citation
  • 26.

    Maksem JA, & Roessmann U: Apert's syndrome with central nervous system anomalies. Acta Neuropathol 48:5961, 1979 Maksem JA, Roessmann U: Apert's syndrome with central nervous system anomalies. Acta Neuropathol 48:59–61, 1979

    • Search Google Scholar
    • Export Citation
  • 27.

    Marchac D, & Renier D: Craniofacial Surgery for Craniosynostosis. Boston: Little, Brown, 1982 Marchac D, Renier D: Craniofacial Surgery for Craniosynostosis. Boston: Little, Brown, 1982

    • Search Google Scholar
    • Export Citation
  • 28.

    McGill T: Otolaryngologic aspects of Apert syndrome. Clin Plast Surg 18:309319, 1991 McGill T: Otolaryngologic aspects of Apert syndrome. Clin Plast Surg 18:309–319, 1991

    • Search Google Scholar
    • Export Citation
  • 29.

    Miller ME, , Kido D, & Horner F: Cavum vergae. Association with neurologic abnormality and diagnosis by magnetic resonance imaging. Arch Neurol 43:821823, 1986 Miller ME, Kido D, Horner F: Cavum vergae. Association with neurologic abnormality and diagnosis by magnetic resonance imaging. Arch Neurol 43:821–823, 1986

    • Search Google Scholar
    • Export Citation
  • 30.

    Mixter RC, , David DJ, & Perloff WH, et al. : Obstructive sleep apnea in Apert's and Pfeiffer's syndrome: more than a craniofacial abnormality. Plast Reconstr Surg 86:457463, 1990 Mixter RC, David DJ, Perloff WH, et al: Obstructive sleep apnea in Apert's and Pfeiffer's syndrome: more than a craniofacial abnormality. Plast Reconstr Surg 86:457–463, 1990

    • Search Google Scholar
    • Export Citation
  • 31.

    Patton MA, , Goodship J, & Hayward R, et al. : Intellectual development in Apert's syndrome: a long term follow up of 29 patients. J Med Genet 25:164167, 1988 Patton MA, Goodship J, Hayward R, et al: Intellectual development in Apert's syndrome: a long term follow up of 29 patients. J Med Genet 25:164–167, 1988

    • Search Google Scholar
    • Export Citation
  • 32.

    Pertschuk MJ, & Whitaker LA: Psychosocial adjustment and craniofacial malformations in childhood. Plast Reconstr Surg 75:177182, 1985 Pertschuk MJ, Whitaker LA: Psychosocial adjustment and craniofacial malformations in childhood. Plast Reconstr Surg 75:177–182, 1985

    • Search Google Scholar
    • Export Citation
  • 33.

    Renier D: Intracranial pressure in craniosynostosis: pre- and postoperative recordings—correlation with functional results, in Persing JA, , Edgerton MT, & Jane JA (eds): Scientific Foundations and Surgical Treatment of Craniosynostosis. Baltimore: Williams & Wilkins, 1989, pp 263269 Renier D: Intracranial pressure in craniosynostosis: pre- and postoperative recordings—correlation with functional results, in Persing JA, Edgerton MT, Jane JA (eds): Scientific Foundations and Surgical Treatment of Craniosynostosis. Baltimore: Williams & Wilkins, 1989, pp 263–269

    • Search Google Scholar
    • Export Citation
  • 34.

    Renier D, , Sainte-Rose C, & Marchac D, et al. : Intracranial pressure in craniostenosis. J Neurosurg 57:370377, 1982 Renier D, Sainte-Rose C, Marchac D, et al: Intracranial pressure in craniostenosis. J Neurosurg 57:370–377, 1982

    • Search Google Scholar
    • Export Citation
  • 35.

    Rogers-Salyer M, , Jensen AG, & Barden RC: Effects of facial deformities and physical attractiveness on mother-infant bonding, in Marchac D (ed): Craniofacial Surgery. Proceedings of the First International Congress of Cranio-Maxillo-Facial Surgery. Berlin: Springer-Verlag, 1987, pp 481485 Rogers-Salyer M, Jensen AG, Barden RC: Effects of facial deformities and physical attractiveness on mother-infant bonding, in Marchac D (ed): Craniofacial Surgery. Proceedings of the First International Congress of Cranio-Maxillo-Facial Surgery. Berlin: Springer-Verlag, 1987, pp 481–485

    • Search Google Scholar
    • Export Citation
  • 36.

    Sauerwein HC, & Lassonde M: Cognitive and sensori-motor functioning in the absence of the corpus callosum: neuropsychological studies in callosal agenesis and callosotomized patients. Behav Brain Res 64:229240, 1994 Sauerwein HC, Lassonde M: Cognitive and sensori-motor functioning in the absence of the corpus callosum: neuropsychological studies in callosal agenesis and callosotomized patients. Behav Brain Res 64:229–240, 1994

    • Search Google Scholar
    • Export Citation
  • 37.

    Schaefer GB, , Bodensteiner JB, & Thompson JN Jr: Subtle anomalies of the septum pellucidum and neurodevelopmental deficits. Dev Med Child Neurol 36:554559, 1994 Schaefer GB, Bodensteiner JB, Thompson JN Jr: Subtle anomalies of the septum pellucidum and neurodevelopmental deficits. Dev Med Child Neurol 36:554–559, 1994

    • Search Google Scholar
    • Export Citation
  • 38.

    Strauss E, , Wada J, & Hunter M: Callosal morphology and performance on intelligence tests. J Clin Exp Neuropsychol 16:7983, 1994 Strauss E, Wada J, Hunter M: Callosal morphology and performance on intelligence tests. J Clin Exp Neuropsychol 16:79–83, 1994

    • Search Google Scholar
    • Export Citation
  • 39.

    Teng RJ, , Wang PJ, & Wang TR, et al. : Apert syndrome associated with septo-optic dysplasia. Pediatr Neurol 5:384388, 1989 Teng RJ, Wang PJ, Wang TR, et al: Apert syndrome associated with septo-optic dysplasia. Pediatr Neurol 5:384–388, 1989

    • Search Google Scholar
    • Export Citation
  • 40.

    Tünte W, & Lenz W: Zur Häufigkeit und Mutationsrate des Apert-Syndroms. Humangenetik 4:104111, 1967 Tünte W, Lenz W: Zur Häufigkeit und Mutationsrate des Apert-Syndroms. Humangenetik 4:104–111, 1967

    • Search Google Scholar
    • Export Citation
  • 41.

    Vergani P, , Ghidini A, & Strobelt N, et al. : Prognostic indicators in the prenatal diagnosis of agenesis of corpus callosum. Am J Obstet Gynecol 170:753758, 1994 Vergani P, Ghidini A, Strobelt N, et al: Prognostic indicators in the prenatal diagnosis of agenesis of corpus callosum. Am J Obstet Gynecol 170:753–758, 1994

    • Search Google Scholar
    • Export Citation

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