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. Author manuscript; available in PMC: 2019 Mar 1.
Published in final edited form as: Adv Neurodev Disord. 2018 Jan 11;2(1):49–61. doi: 10.1007/s41252-017-0051-3

Table 2. An overview of studies analysing the early vocal behaviours of infants later diagnosed with Rett Syndrome.

Authors Participants (M/F) Control group (M/F) Age range (in months) Behaviours analysed Results
Marschik et al. (2009) PSV-RTT: 1 (0/1) 0-24 Vocalisations
Vocalisation atypicalities
Babbling
Word production.
  • At 6 months old, repetitive un-modulated vocalisations were present. Inspiratory vocalisations were observed. First words occurred around the first birthday; word combinations were not observed before regression

  • Instances of normal babbling were observed interspersed with atypical babbling.

  • All vocalisations were double coded, k=0.91.

Marschik et al. (2012a) PSV-RTT: 6 (0/6) T1: 7-8
T2: 9-10
T3: 11-12
T4: 13-24
Canonical babbling
Volubility
Vocalisation atypicalities
Proto-word combinations
Lexical diversity.
  • Presence of atypical vocalisations in all participants from 13-24 months old

  • 4/6 females demonstrated canonical syllables and produced proto-words, one participant developed proto-word combinations, complex consonant-vowel clusters were rarely seen

  • Volubility (total) increased from 7-12 months, then decreased from 13-24 months.

  • Vocalisations scored by three observers, Fleiss’ coefficient= 0.92.

Marschik et al. (2012b) PSV-RTT: 5 (0/5) 12-24 Non-linguistic and (pre-)linguistic vocalisations used for communicative purposes*.
  • Non-verbal behaviours dominated over verbal behaviours for most communicative purposes.

  • All vocalisations double coded, k=0.86.

Marschik et al. (2013a) Typical RTT: 10 (0/10)
PSV-RTT: 5 (0/5)
0-24 Cooing
Babbling
(Proto-)words
Word combinations
Vocalisation atypicalities.
  • 12/15 participants demonstrated cooing, 9 participants demonstrated canonical babbling, Proto-words were observed in 3 of the typical RTT group and 3 of the PSV group, 1 PSV-RTT participant demonstrated word combinations. The more complex the vocalisation, the fewer participants presented it.

  • Cooing and babbling was frequently observed to be atypical.

  • Vocalisations scored by four observers, agreement reported as 0.97.

Marschik et al. (2013b) Typical RTT: 1 (0/1)
PSV-RTT: 1 (0/1)
1 (0/1) T1: 9-12
T2: 13-18
T3: 19-24
Non-linguistic and (pre-)linguistic vocalisations used for communicative purposes*.
  • Repertoire of pre-linguistic vocalisations greater in TD child> female with PSV> female with typical RTT (where no pre-linguistic vocalisations were observed).

  • All vocalisations double coded, disagreements (7%) discussed.

Bartl-Pokorny et al. (2013) Typical RTT: 6 (0/6) 9-12 Non-linguistic and (pre-)linguistic vocalisations used for communicative purposes*.
  • Non-linguistic vocalisations were used to gain attention and answer, also to request an object, reject, and to respond in the social convention; pre-linguistic vocalisations for communicative purposes were not observed.

  • All vocalisations double coded, disagreements (13%) discussed.

Marschik et al. (2014a) PSV-RTT: 1 (0/1) 0-24 Babbling
Volubility
Vocalisation atypicalities
(Proto-)words
Word combinations.
  • Typical babbling (appeared at 7 months) was interspersed with atypical vocalisations

  • First words produced around 12 months; mental lexicon of 12 proto-words; word combinations produced around 21 months. Echolalia was also observed

  • Quantitative and qualitative analysis demonstrated reduced volubility and complexity of vocalisations.

  • All vocalisations double coded, disagreements discussed.

Pokorny et al. (2016) 4 (0/4) 4 (0/4) 6-12 Acoustic (signal level) characteristics of pre-linguistic vocalisations.
  • An unweighted average recall of 76.5% was achieved for automatically identifying the RTT group vs. the TD group.

  • Disagreements discussed.

*

i.e. unspecified vocalisations, pleasure vocalisations, laughing, crying, fussing, canonical and variegated babbling, onomatopoetics, (proto-)words, word combinations. ICC: Intra-class coefficients, k: Kappa coefficient.