BACKGROUND: Even though Down syndrome is the most common chromosomal cause of intellectual disability, studies on early development are scarce. AIM: To describe movements and postures in 3- to 5-month-old infants with Down syndrome and assess the relation between pre- and perinatal risk factors and the eventual motor performance. METHODS AND PROCEDURES: Exploratory study; 47 infants with Down syndrome (26 males, 27 infants born preterm, 22 infants with congenital heart disease) were videoed at 10-19 weeks post-term (median=14 weeks). We assessed their Motor Optimality Score (MOS) based on postures and movements (including fidgety movements) and compared it to that of 47 infants later diagnosed with cerebral palsy and 47 infants with a normal neurological outcome, matched for gestational and recording ages. OUTCOMES AND RESULTS: The MOS (median=13, range 10-28) was significantly lower than in infants with a normal neurological outcome (median=26), but higher than in infants later diagnosed with cerebral palsy (median=6). Fourteen infants with Down syndrome showed normal fidgety movements, 13 no fidgety movements, and 20 exaggerated, too fast or too slow fidgety movements. A lack of movements to the midline and several atypical postures were observed. Neither preterm birth nor congenital heart disease was related to aberrant fidgety movements or reduced MOS. CONCLUSIONS AND IMPLICATIONS: The heterogeneity in fidgety movements and MOS add to an understanding of the large variability of the early phenotype of Down syndrome. Studies on the predictive values of the early spontaneous motor repertoire, especially for the cognitive outcome, are warranted. WHAT THIS PAPER ADDS: The significance of this exploratory study lies in its minute description of the motor repertoire of infants with Down syndrome aged 3-5 months. Thirty percent of infants with Down syndrome showed age-specific normal fidgety movements. The rate of abnormal fidgety movements (large amplitude, high/slow speed) or a lack of fidgety movements was exceedingly high. The motor optimality score of infants with Down syndrome was lower than in infants with normal neurological outcome but higher than in infants who were later diagnosed with cerebral palsy. Neither preterm birth nor congenital heart disease were related to the motor performance at 3-5 months.

Children's Department City Hospital of Ostrava Ostrava Czech Republic

Department of Physical Therapy Communication Science and Disorders and Occupational Therapy School of Medicine University of São Paulo São Paulo Brazil

Developmental and Early Physiotherapy Unit Department of Physiotherapy and Rehabilitation Faculty of Health Sciences Hacettepe University Ankara Turkey

Division of Infectious Diseases David Geffen School of Medicine University of California Los Angeles Los Angeles CA USA

Division of Neonatology Department of Pediatrics and Adolescent Medicine Medical University of Graz Graz Austria

Rehabilitation Department Children's Hospital of Fudan University Shanghai China

Research Unit iDN Interdisciplinary Developmental Neuroscience Department of Phoniatrics Medical University of Graz Graz Austria

Research Unit iDN Interdisciplinary Developmental Neuroscience Department of Phoniatrics Medical University of Graz Graz Austria; Center of Neurodevelopmental Disorders Department of Women's and Children's Health Karolinska Institutet Stockholm Sweden

School of Public Health University of São Paulo São Paulo Brazil

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Özcaliskan S., Adamson L.B., Dimitrova N., Bailey J., Schmuck L. Baby sign but not spontaneous gesture predicts later vocabulary in children with Down syndrome. Journal of Child Language. 2016;43(4):948–963. PubMed PMC

Alsaied T., Marino B.S., Esbensen A.J., Anixt J.S., Epstein J.N., Cnota J.F. Does congenital heart disease affect neurodevelopmental outcomes in children with Down syndrome? Congenital Heart Disease. 2016;11(1):26–33. PubMed

Berghuis S.A., Soechitram S.D., Hitzert M.M., Sauer P.J., Bos A.F. Prenatal exposure to polychlorinated biphenyls and their hydroxylated metabolites is associated with motor development of three-month-old infants. Neurotoxicology. 2013;38:124–130. PubMed

Bosanquet M., Copeland L., Ware R., Boyd R. A systematic review of tests to predict cerebral palsy in young children. Developmental Medicine & Child Neurology. 2013;55(5):418–426. PubMed

Bruggink J.L., Cioni G., Einspieler C., Maathuis C.G., Pascale R., Bos A.F. Early motor repertoire is related to level of self-mobility in children with cerebral palsy at school age. Developmental Medicine & Child Neurology. 2009;51(11):878–885. PubMed

Butcher P.R., van Braekel K., Bouma A., Einspieler C., Stremmelaar E.F., Bos A.F. The quality of preterm infants’ spontaneous movements: an early indicator of intelligence and behaviour at school age. Journal of Child Psychology and Psychiatry. 2009;50(8):920–930. PubMed

Cardoso A.C., Campos A.C., Santos M.M., Santos D.C., Rocha N.A. Motor performance of children with Down syndrome and typical development at 2 to 4 and 24 months. Pediatric Physical Therapy. 2015;27(2):135–141. PubMed

de Campos A.C., Cerra L.C., Silva F.P., Rocha N.A. Bimanual coordination in typical ad atypical infants: movement initiation, object touching and grasping. Research in Developmental Disabilities. 2014;35(10):2416–2422. PubMed PMC

de Vries N.K., van der Veere C.N., Reijneveld S.A., Bos A.F. Early neurological outcome of young infants exposed to selective serotonin reuptake inhibitors during pregnancy: results from the observational SMOK study. PLoS One. 2013;8(5):e64654. PubMed PMC

Dibiasi J., Einspieler C. Can spontaneous movements be modulated by visual and acoustic stimulation in 3-month-old infants? Early Human Development. 2002;68(1):27–37. PubMed

Dibiasi J., Einspieler C. Load perturbation does not influence spontaneous movements in 3-month-old infants. Early Human Development. 2004;77(1-2):37–46. PubMed

Einspieler C., Prechtl H.F.R. Prechtl's assessment of general movements: a diagnostic tool for the functional assessment of the young nervous system. Mental Retardation and Developmental Disabilities Research Reviews. 2005;11(1):61–67. PubMed

Einspieler C., Prechtl H.F.R., Bos A.F., Ferrari F., Cioni G. Prechtl’s method on the qualitative assessment of general movements in preterm: Term and young infants. Clinics in Developmental Medicine. 2004;167:1–104.

Einspieler C., Kerr A.M., Prechtl H.F.R. Abnormal general movements in girls with Rett disorder: The first four months of life. Brain Development. 2005;27:S8–S13. PubMed

Einspieler C., Marschik P.B., Milioti S., Nakajima Y., Bos A.F., Prechtl H.F. Are abnormal fidgety movements an early marker for complex minor neurological dysfunction at puberty? Early Human Development. 2007;83(8):521–525. PubMed

Einspieler C., Hirota H., Yuge M., Dejima S., Marschik P.B. Early behavioural manifestation of Smith-Magenis syndrome (del 17p11.2) in a 4-month-old boy. Developmental Neurorehabilitation. 2012;15(4):313–316. PubMed

Einspieler C., Sigafoos J., Bartl-Pokorny K.D., Landa R., Marschik P.B., Bölte S. Highlighting the first 5 months of life: General movements in infants later diagnosed with autism spectrum disorder or Rett syndrome. Research in Autism Spectrum Disorders. 2014;8(3):286–291. PubMed PMC

Einspieler C., Peharz R., Marschik P.B. Fidgety movements – Tiny in appearance, but huge in impact. Jornal De Pediatria. 2016;92(3):S64–S70. PubMed

Fjørtoft T., Einspieler C., Adde L., Strand L.I. Inter-observer reliability of the Assessment of Motor Repertoire – 3 to 5 Months based on video recordings of infants? Early Human Development. 2009;85(5):297–302. PubMed

Flanagan J.E., Landa R., Bhat A., Bauman M. Head lag in infants at risk for autism: A preliminary study. American Journal of Occupational Therapy. 2012;66(5):577–585. PubMed

Grieco J., Pulsifer M., Seligsohn K., Skotko B., Schwartz A. Down syndrome: Cognitive and behavioural functioning across the life span. American Journal of Medical Genetics C Seminars in Medical Genetics. 2015;169(2):135–149. PubMed

Groen S.E., de Blécourt A.C., Postema K., Hadders-Algra M. General movement in early infancy predict neuromotor development at 9 to 12 years of age. Developmental Medicine & Child Neurology. 2005;47(11):713–738. PubMed

Haataja L., Mercuri E., Regev R., Cowan F., Rutherford M., Dobowitz V. Optimality score for the neurological examination of the infant at 12 and 18 months of age? J Pediatr. 1999;135(2):153–161. PubMed

Kurtovic-Kozaric A., Mehinovic L., Malasevic R., Mesanovic S., Jaros T., Stomornjak-Vukadin M. Ten-year trends in prevalence of Down syndrome in a developing country: impact of the maternal age and prenatal screening. European Journal of Obstetrics and Gynecology and Reproductive Biology. 2016;206:79–83. PubMed

Latash M.L. Learning motor synergies by persons with Down syndrome. Journal of Intellectual Disability Research. 2007;51(Pt 12):962–971. PubMed

Loane M., Morris J.K., Addor M.C., Arriola L., Budd J., Doray B. Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening. European Journal of Human Genetics. 2013;21(1):27–33. PubMed PMC

Luxwolda M.F., Kuipers R.S., Boersma E.R., van Goor S.A., Dijck-Brouwer D.A., Bos A.F. DHA status is positively related to motor development in breastfed African and Dutch infants. Nutritional Neuroscience. 2014;17(3):97–103. PubMed

Marschik P.B., Soloveichick M., Windpassinger C., Einspieler C. General movements in genetic disorders: A first look into Cornelia de Lange syndrome. Developmental Neurorehabilitation. 2015;18(4):280–282. PubMed PMC

Mazzone L., Mugno D., Mazzone D. The general movements in children with Down syndrome. Early Human Development. 2004;79(2):119–130. PubMed

Morris A.F., Vaughan S.E., Vaccaro P. Measurements of neuromuscular tone and strength in Down’s syndrome children. Journal of Mental Deficiency Research. 1982;26(Pt 1):41–46. PubMed

Nomura Y., Segawa M. Clinical features of the early stage of the Rett syndrome. Brain Development. 1990;12(1):16–19. PubMed

Ploegstra W.M., Bos A.F., de Vries N.K.S. General movements in healthy full term infants during the first week after birth. Early Human Development. 2014;90(1):55–60. PubMed

Prechtl H.F.R., Einspieler C. Is neurological assessment of the fetus possible? European Journal of Obstetrics and Gynecology and Reproductive Biology. 1997;75(1):81–84. PubMed

Prechtl H.F.R., Einspieler C., Cioni G., Bos A.F., Ferrari F., Sontheimer D. An early marker for neurological deficits after perinatal brain lesions. The Lancet. 1997;349:1361–1363. PubMed

Prechtl H.F.R. General movement assessment as a method of developmental neurology: new paradigms and their consequences. The 1999 Ronnie Mac Keith Lecture. Developmental Medicine & Child Neurology. 2001;43(12):836–842. PubMed

Saito K., Watanabe Y. The early rehabilitation in children with Down. Paying special attention to shuffling and comorbidities of developmental disorder. No To Hattatsu. 2016;48(2):122–126. PubMed

Touwen B.C.L. Neurological Development in Infancy. London: Mac Keith Press. 1976

Tudella E., Pereira K., Pedrolongo Basso R., Savelsbergh G.J.P. Description of the motor development of 3--12 month old infants with Down syndrome: The influence of the postural body position. Research in Developmental Disabilities. 2011;32:1514–1520. PubMed

Ulrich B.D., Ulrich D.A. Spontaneous leg movements of infants with Dow syndrome and nondisabled infants. Child Development. 1995;66(6):1844–1855. PubMed

Visootsak J., Huddleston L., Buterbaugh A., Perkins A., Sherman S., Hunter J. Influence of congenital heart defect on psychosocial and neurodevelopmental outcomes in children with Down syndrome. Cardiology in the Young. 2016;26(2):250–256. PubMed PMC

Yang H., Einspieler C., Shi W., Marschik P.B., Wang Y., Cao Y. Cerebral palsy in children: movements and postures during early infancy dependent on preterm vs. full term births. Early Human Development. 2012;88(10):837–843. PubMed PMC

Yuge M., Marschik P.B., Nakajima Y., Yamori Y., Kanda T., Hirota H. Movements and postures of infants aged 3 to 5 months: to what extent is their optimality related to perinatal events and to the neurological outcome? Early Human Development. 2011;87(3):231–237. PubMed

Zappella M., Einspieler C., Bartl-Pokorny K.D., Krieber M., Coleman M., Bölte S. What do home videos tell us about early motor and socio-communicative behaviours in children with autistic features during the second year of life – An exploratory study. Early Human Development. 2015;9:569–575. PubMed PMC

Cerebral Palsy: Early Markers of Clinical Phenotype and Functional Outcome