Bilge Nur YARDIMCI LOKMANOĞLU, Akmer MUTLU, Ayşe LİVANELİOĞLU, Göknur HALİLOĞLU

The general movements assessment and effects of an early intervention in an infant with Cri du chat syndrome: a case report

Background. Cri du chat syndrome (CdCS) is a rare orphan genetic disorder. Infants with CdCS have a neurodevelopmental dysfunction, but there are limited studies on their spontaneous movements or effect of the early interventions in children with CdCS. This study aimed to describe early spontaneous movements and investigate the effects of an early intervention in an infant with the CdCS. Case. We analyzed the detailed general movements assessment (GMA) of an infant with CdCS at 14 weeks, and the Bayley Scales of Infant and Toddler Development-third edition (Bayley-III) were used for the determining and the follow-up of developmental functioning at 14 weeks, 6 months and 12 months. The infant was included in an early intervention beginning from 14 weeks. Fidgety movements were absent. The motor repertoire appeared significantly reduced, and the movement character was monotonous at 14 weeks. Although the infant achieved some developmental milestones with the early intervention program, the improvements were not reflected in the Bayley-III composite score. Conclusions. As a consequence, abnormal GMA results, including fidgety movements and concurrent movement patterns, seen in CdCS can be associated with early signs of neurodevelopmental dysfunction. Early intervention programs in infants with genetic disorders could help enable the early achievement of motor milestones.

PDF

___

1. Cerruti Mainardi P. Cri du Chat syndrome. Orphanet J Rare Dis 2006; 1: 33.

2. Simmons AD, Püschel AW, McPherson JD, Overhauser J, Lovett M. Molecular cloning and mapping of human semaphorin F from the Cridu-chat candidate interval. Biochem Biophys Res Commun 1998; 242: 685-691.

3. Wilkins LE, Brown JA, Nance WE, Wolf B. Clinical heterogeneity in 80 home-reared children with cri du chat syndrome. J Pediatr 1983; 102: 528-533.

4. Higurashi M, Oda M, Iijima K, et al. Livebirth prevalence and follow-up of malformation syndromes in 27,472 newborns. Brain Dev 1990; 12: 770-773.

5. Niebuhr E. The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features. Hum Genet 1978; 44: 227-275.

6. Mainardi PC, Perfumo C, Calì A, et al. Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. J Med Genet 2001; 38: 151-158.

7. Honjo RS, Mello CB, Pimenta LSE, et al. Cri du Chat syndrome: characteristics of 73 Brazilian patients. J Intellect Disabil Res 2018; 62: 467-473.

8. Correa DG, Ventura N, Gasparetto EL. Pontine hypoplasia in cri-du-chat syndrome: alterations in diffusion tensor imaging. Childs Nerv Syst 2017; 33: 1241-1242.

9. Mainardi PC, Pastore G, Castronovo C, et al. The natural history of cri du chat syndrome. A report from the Italian Register. Eur J Med Genet 2006; 49: 363-383.

10. Prechtl HF, Einspieler C, Cioni G, Bos AF, Ferrari F, Sontheimer D. An early marker for neurological deficits after perinatal brain lesions. Lancet 1997; 349: 1361-1363.

11. Novak I, Morgan C, Adde L, et al. Early, accurate diagnosis and early intervention in cerebral palsy: advances in diagnosis and treatment. JAMA Pediatr 2017; 171: 897-907.

12. Einspieler C, Bos AF, Krieber-Tomantschger M, et al. Cerebral palsy: early markers of clinical phenotype and functional outcome. J Clin Med 2019; 8: 1616.

13. Einspieler C, Prechtl HFR, Bos AF, Ferrari F, Cioni G. Prechtl’s Method on the Qualitative Assessment of General Movements in Preterm, Term and Young Infants. (Clinics in Developmental Medicine No. 167), London: Mac Keith Press, 2004

14. Bayley N. Bayley Scales of Infant and Toddler Development (Bayley-III). (3rd ed). San Antonia, TX, USA: PsychCorp, Pearson, Harcourt Assessment, 2006.

15. Martin JH, Chakrabarty S, Friel KM. Harnessing activity-dependent plasticity to repair the damaged corticospinal tract in an animal model of cerebral palsy. Dev Med Child Neurol 2011; 53(Suppl 4): 9-13.

16. Eyre J. Corticospinal tract development and activity dependent plasticity. In: Shepherd R (ed). Cerebral Palsy in Infancy. Churchill Livingstone, Elsevier Health Sciences, 2014: 51-70.

17. Einspieler C, Hirota H, Yuge M, Dejima S, Marschik PB. Early behavioural manifestation of SmithMagenis syndrome (del 17p11. 2) in a 4-month-old boy. Dev Neurorehabil 2012; 15: 313-316.

18. Herrero D, Einspieler C, Panvequio Aizawa CY, et al; GenGM Study Group. The motor repertoire in 3-to 5-month old infants with Down syndrome. Res Dev Disabil 2017; 67: 1-8.

19. Pansy J, Barones C, Urlesberger B, et al. Early motor and pre-linguistic verbal development in PraderWilli syndrome – A case report. Res Dev Disabil 2019; 88: 16-21.

20. Bruggink JL, Cioni G, Einspieler C, Maathuis CG, Pascale R, Bos AF. Early motor repertoire is related to level of self-mobility in children with cerebral palsy at school age. Dev Med Child Neurol 2009; 51: 878-885.

21. Yang H, Einspieler C, Shi W, et al. Cerebral palsy in children: movements and postures during early infancy dependent on preterm vs. full term births. Early Hum Dev 2012; 88: 837-843.

22. Zang FF, Yang H, Han Q, et al. Very low birth weight infants in China: the predictive value of the motor repertoire at 3 to 5 months for the motor performance at 12 months. Early Hum Dev 2016; 100: 27-32.

23. Butcher PR, van Braekel K, Bouma A, Einspieler C, Stremmelaar EF, Bos AF. The quality of preterm infants’ spontaneous movements: an early indicator of intelligence and behaviour at school age. J Child Psychol Psychiatry 2009; 50: 920-930.

24. Salavati S, Einspieler C, Vagelli G, et al. The association between the early motor repertoire and language development in term children born after normal pregnancy. Early Hum Dev 2017; 111: 30-35.

25. Peyton C, Einspieler C. General movements: a behavioral biomarker of later motor and cognitive dysfunction in NICU graduates. Pediatr Ann 2018; 47: e159-e164.

26. Guala A, Spunton M, Tognon F, et al. Psychomotor development in cri du chat syndrome: comparison in two Italian cohorts with different rehabilitation methods. Sci World J 2016; 2016: 3125283