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  • 1.
    Kimber, Eva
    et al.
    Department of Women’s and Children’s Health, Uppsala University Children’s Hospital, Uppsala, Sweden / Department of Paediatrics, Institute of Clinical Sciences, University of Gothenburg, The Queen Silvia Children’s Hospital, Gothenburg, Sweden.
    Tajsharghi, Homa
    Department of Pathology, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden.
    Kroksmark, Anna-Karin
    Department of Paediatrics, Institute of Clinical Sciences, University of Gothenburg, The Queen Silvia Children’s Hospital, Gothenburg, Sweden.
    Oldfors, Anders
    Department of Pathology, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden.
    Tulinius, Már
    Department of Paediatrics, Institute of Clinical Sciences, University of Gothenburg, The Queen Silvia Children’s Hospital, Gothenburg, Sweden.
    Distal arthrogryposis: clinical and genetic findings2012In: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 101, no 8, p. 877-887Article in journal (Refereed)
    Abstract [en]

    AIM: Distal arthrogryposis is characterized by congenital contractures predominantly in hands and feet. Mutations in sarcomeric protein genes are involved in several types of distal arthrogryposis. Our aim is to describe clinical and molecular genetic findings in individuals with distal arthrogryposis and evaluate the genotype-phenotype correlation.

    METHOD: We investigated 39 patients from 21 families. Clinical history, including neonatal findings, joint involvement and motor function, was documented. Clinical examination was performed including evaluation of muscle strength. Molecular genetic investigations were carried out in 19 index cases. Muscle biopsies from 17 patients were analysed.

    RESULTS: A pathogenic mutation was found in six families with 19 affected family members with autosomal dominant inheritance and in one child with sporadic occurrence. In three families and in one child with sporadic form, the identified mutation was de novo. Muscle weakness was found in 17 patients. Ambulation was affected in four patients and hand function in 28. Fourteen patients reported pain related to muscle and joint affection.

    CONCLUSION: The clinical findings were highly variable between families and also within families. Mutations in the same gene were found in different syndromes suggesting varying clinical penetrance and expression, and different gene mutations were found in the same clinical syndrome demonstrating genetic heterogeneity.

  • 2.
    Takahashi, Yuki
    et al.
    Karolinska Inst, Stockholm, Sweden / Japanese Red Cross Toyota Coll Nursing, Aichi, Japan.
    Jonas, Wibke
    Karolinska Inst, Stockholm, Sweden / Univ Toronto, Canada.
    Ransjo-Arvidson, Anna-Berit
    Karolinska Inst, Stockholm, Sweden.
    Lidfors, Lena
    Swedish University of Agricultural Sciences, Skara, Sweden.
    Uvnäs Moberg, Kerstin
    University of Skövde, School of Bioscience. University of Skövde, The Systems Biology Research Centre. Swedish University of Agricultural Sciences, Skara, Sweden.
    Nissen, Eva
    Karolinska Institutet, Stockholm, Sweden.
    Weight loss and low age are associated with intensity of rooting behaviours in newborn infants2015In: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 104, no 10, p. 1018-1023Article in journal (Refereed)
    Abstract [en]

    Aim: Little is known about the developing breastfeeding behaviour of newborn infants. This study describes infants' prebreastfeeding behaviour during the second day of life and explores possible associations with infant characteristics. Methods: We studied 13 mothers and healthy full-term infants after normal births. At 2448 hours of life, the newborns were placed in skin-to-skin contact with their mothers for breastfeeding and were video-filmed. The order, frequency and duration of predefined infant prefeeding behaviours and suckling were coded and analysed using computer-based video software. Results: Prefeeding behaviours occurred in the following order: rooting, hand to mouth movements, licking of the nipple and hand to breast to mouth movements. The infants started to suckle at a median of one to two minutes. Rooting was the most common behaviour, observed in 12 infants. The duration of rooting movements during the last minute before breastfeeding was inversely related to neonatal age (p = 0.001) and positively related to neonatal weight loss (p = 0.02) after birth. Conclusion: Infants exhibited a distinct sequence of prefeeding behaviours during the second day of life, and our findings suggest that rooting movements were governed by mechanisms involved in the regulation of food intake and weight gain.

  • 3.
    Widström, Ann-Marie
    et al.
    Division of Reproductive and Perinatal Health Care, Department of Woman's and Children's Health, Karolinska Institutet, Retzius väg 13 A, 171 77 Stockholm, Sweden.
    Lilja, Gunilla
    Division Nursing, Department of Neurobiology, Care Science and Society, Karolinska Institutet, S-17177 Stockholm, Sweden.
    Aaltomaa-Michalias, P.
    Södersjukhuset, Stockholm, Sweden.
    Dahllöf, A.
    Södersjukhuset, Stockholm, Sweden.
    Lintula, M.
    Karolinska University Hospital, Stockholm, Sweden.
    Nissen, Eva
    University of Skövde, School of Life Sciences.
    Newborn behaviour to locate the breast when skin-to-skin: a possible method for enabling early self-regulation2011In: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 100, no 1, p. 79-85Article in journal (Refereed)
    Abstract [en]

    Aim: The aim of this study was to provide a more detailed analysis of the infant’s behavioural sequence that begins immediately after birth and terminates with grasping the nipple, suckling and then falling asleep. Method:Twenty-eight full-term infants were videotaped immediately after birth. A video protocol was developed to examine infant behaviours identified from five random videotapes. Results:When birth crying had stopped, the babies showed a short period of relaxation and then successively became alert. They went through an ‘awakening phase’, an ‘active phase’ with movements of limbs, rooting activity and looking at the mother’s face, a ‘crawling phase’ with soliciting sounds, a ‘familiarization phase’ with licking of the areola, and a ‘suckling phase’ and last a ‘sleeping phase’. Five factors related to the time spent to locate the breast: more number of looks at the breast 10–20 min after birth (p < 0.0001); and exposure to meperidine (p = 0.0006) related to increased time. Early start of crawling (p = 0,0040); increased number of ‘soliciting sounds’ (p = 0.0022); and performing hand–breast–mouth movements (p = 0.0105) related to shorter time. Conclusion:  Inborn breastfeeding reflexes were depressed at birth, possibly because of a depressed sensory system. It is hypothesized that when the infant is given the option to peacefully go through the nine behavioural phases birth cry, relaxation, awakening, activity, crawling, resting, familiarization, suckling and sleeping when skin-to-skin with its mother this results in early optimalself-regulation.

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