Early Child Development and Care Impaired language abilities and

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Dec 19, 2012 - School of Medicine, The University of Queensland, Brisbane,. Australia d. Department of Speech Pathology, The Royal Children's Hospital, .... The male Index Case, Child NS, was 5 years 7 months of age at the time of involvement ..... Although parental recall of developmental language milestones is.
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Impaired language abilities and prelinguistic communication skills in a child with a diagnosis of galactosaemia a

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Fiona M. Lewis , David J. Coman , Maryanne Syrmis , Sarah d

Kilcoyne & Bruce E. Murdoch

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Centre for Neurogenic Communication Disorders Research, School of Health and Rehabilitation Sciences, University of Queensland, Australia b

Department of Metabolic Medicine, The Royal Children's Hospital, Brisbane, Australia c

School of Medicine, The University of Queensland, Brisbane, Australia d

Department of Speech Pathology, The Royal Children's Hospital, Brisbane, Australia Published online: 19 Dec 2012.

To cite this article: Fiona M. Lewis, David J. Coman, Maryanne Syrmis, Sarah Kilcoyne & Bruce E. Murdoch (2013) Impaired language abilities and pre-linguistic communication skills in a child with a diagnosis of galactosaemia, Early Child Development and Care, 183:12, 1747-1757, DOI: 10.1080/03004430.2012.751101 To link to this article: http://dx.doi.org/10.1080/03004430.2012.751101

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Early Child Development and Care, 2013 Vol. 183, No. 12, 1747– 1757, http://dx.doi.org/10.1080/03004430.2012.751101

Impaired language abilities and pre-linguistic communication skills in a child with a diagnosis of galactosaemia

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Fiona M. Lewisa∗ , David J. Comanb,c, Maryanne Syrmisd, Sarah Kilcoyned and Bruce E. Murdocha a Centre for Neurogenic Communication Disorders Research, School of Health and Rehabilitation Sciences, University of Queensland, Australia; bDepartment of Metabolic Medicine, The Royal Children’s Hospital, Brisbane, Australia; cSchool of Medicine, The University of Queensland, Brisbane, Australia; dDepartment of Speech Pathology, The Royal Children’s Hospital, Brisbane, Australia

(Received 30 October 2012; final version received 15 November 2012) Variable language outcomes have been reported in children with the metabolic disorder galactosaemia (GAL), but these outcomes do not appear to be related to the severity of symptoms in the neonatal period, compliance with the non-dairy diet, or IQ. Currently, there is no means by which at-risk children with GAL can be identified early to initiate proactive language support. This case –control study aimed to provide preliminary data on pre-linguistic communication skills and current language skill performance in a male school-aged child with the disorder. Although the child’s cognitive skills were in the average range, he presented with significantly reduced auditory comprehension skills and reduced skills across a number of pre-linguistic behaviours known to predict subsequent language skill development. The findings suggest that further investigation of early-developing pre-linguistic communication skills in children with GAL is warranted, in particular, prospective monitoring of emergent pre-linguistic communication skills in infants with the disorder. Keywords: galactosaemia; childhood language development; pre-linguistic skills; language deficits; infant communication skills

The autosomal recessive genetic condition galactosaemia (GAL) (OMIM 230400) (Berry & Elsas, 2011) is a metabolic disorder resulting from a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT). GALT metabolises galactose, which is derived from dietary sources such as milk and milk products (Bosch, 2006). Approximately one child in 45,000 will be born with the disorder (Schadewaldt et al., 2010). Newborns with GAL may appear healthy at birth, but in the absence of GALT, the introduction of galactose-containing breast or bottle feeds leads to the accumulation of high concentrations of galactose and its metabolites in tissues and body fluids (Hoffmann, Wendel, & Schweitzer-Krantz, 2011). The accumulation of toxic metabolites leads to neonatal crisis potentially including diverse system failure and death (Fridovich & Walter, 2008). Treatment, consisting of a severe restriction of dietary galactose such as milk products, is life saving (Hughes et al., 2009). Mass



Corresponding author. Email: [email protected]

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neonatal screening for the disorder allows for pre-symptomatic diagnosis and intervention (Fridovich & Walter, 2008). The implementation of a galactose-free diet is life saving when instituted in the newborn period after the diagnosis of classic GAL (Berry & Elsas, 2011; Fridovich & Walter, 2008). Long-term follow-up of children with GAL, however, has shown that early medical intervention and dietary restrictions, while necessary, do not guarantee normal neurodevelopmental outcomes (Berry & Elsas, 2011). Abnormal motor development (Waggoner, Buist, & Donnell, 1990), developmental delays (Fridovich & Walter, 2008), reduced academic outcomes (Bosch et al., 2004), dyspraxia/childhood apraxia of speech (Hoffmann et al., 2011), and language difficulties (Potter, Lazarus, Johnson, Steiner, & Shriberg, 2008; Waggoner et al., 1990) have been described in school-aged children and young adults with GAL. Variations in individual outcomes have been observed in the disorder (Bosch, 2011; Coman et al., 2010; Hughes et al., 2009), but the variable outcomes do not appear to be related to age at diagnosis and restriction of galactose intake, severity of neonatal crisis, compliance with diet (Bosch, 2011), or necessarily IQ (Hoffmann et al., 2011; Potter et al., 2008), suggesting that other factors may be influencing outcomes. To date, most of the data suggest that the developmental impairments associated with GAL have their origins in prenatal life and that exposure to galactose in the neonatal period may magnify the toxicity (Berry & Elsas, 2011; Potter et al., 2008). Variable language outcomes have been reported in GAL including receptive and expressive language deficits (Kaufman, McBride-Chang, Manis, Wolff, & Nelson, 1995; Potter et al., 2008; Waggoner et al., 1990) and difficulties with word retrieval (Antshel, Epstein, & Waisbren, 2004). It has been suggested that the language deficits associated with GAL are more prevalent in, but not restricted to, individuals with borderline IQ scores. Potter et al. (2008) identified language difficulties in 88% of the children with GAL who were also identified as having borderline-low intelligence in their study. They also reported that 56% of the children with GAL whose IQ was in the average range also presented with language deficits. In all, approximately three-quarters of the children with GAL investigated by Potter and colleagues were identified as experiencing language difficulties, suggesting that a sizable proportion of children with GAL will experience compromised language outcomes. Delayed language development is one of the earliest indicators of developmental deficits that may affect academic and social outcomes for individuals well beyond the early childhood years (Kaiser & Roberts, 2011). Underpinning language development are the pre-verbal communication skills of infancy such as eye gaze, use of gestures, rate and function of communication, production of sounds, syllables, and words, comprehension of words, and object use (Watt, Wetherby, & Shumway, 2006; Wetherby & Prizant, 2002). These skills have been identified as pre-linguistic predictors of later language development and thus allow for earlier and more accurate identification of children at risk of language delay (McCathren, Yoder, & Warren, 2000). It is possible that early identification of children most at risk of the language-based impairments associated with GAL could be achieved through a focus on pre-linguistic skill development, yet no study to date has investigated these pre-verbal skills in children with the disorder. The current preliminary study, therefore, aimed to investigate prelinguistic skills and current language skill performance in a five-year-old child with a diagnosis of GAL.

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Method Case history The male Index Case, Child NS, was 5 years 7 months of age at the time of involvement in the research. He is the middle of three children born to Mr and Mrs S. There were no concerns throughout the pregnancy, and NS was delivered at term through spontaneous vaginal delivery. His birth weight was 3190 g. Breast feeding was initiated after delivery. NS appeared jaundiced at day 2. Once home, his parents expressed concerns regarding ‘colicky’ symptoms at night. He was positively identified on day 6 through the Newborn Screening Programme for Classic GAL (homozygous for the common Q188R mutation), the most common and most severe form of the condition. Breast feeding was immediately ceased and NS was commenced on a soy formula. He remains on a galactose-reduced diet with calcium supplements and is physically developing well (50th percentile for weight and 90th percentile for height). He undergoes regular medical and biochemical monitoring. NS was described by his mother as a happy, active child, interested in games and technology. He plays well alone, is good with self-direction, and adapts well to changes in routine. To develop school readiness, NS received fortnightly occupational therapy and speech pathology input during the year prior to his involvement in the present study. His most recent cognitive assessment at the age of 5 years 2 months (Stanford–Binet) (Roid, 2003) indicated cognitive skills within the average range. NS was in his first year of formal schooling (Prep) at the time of his involvement in the present research. As well as providing biographical and developmental details on their child, NS’s parents completed the Parental Occupation Coding (Jones, 2003). The higher of the two reported codings was documented as an indicator of NS family’s socio-economic status, which placed the family in Jones’s Parental Occupational Group 1 (i.e. senior management in large business organisation, government administration and defence, and qualified professionals).

Control participants Recruitment of control children was undertaken through the placement of an advertisement in the Brisbane’s Child magazine, a freely available magazine aimed at parents within NS’s community. Of the responses to the advertisement, seven males of an age similar to NS’s age met the inclusion criteria of English as a first language, no history of developmental speech or language deficits, no family history of autism, no history of neurological trauma or disease, and normal hearing and vision. Three of these matched NS’s family on Parental Occupation Coding (Jones, 2003). These three children were thus selected to provide comparative data.

Measures The participants’ current language skills were assessed using the Preschool Language Scale – Fourth Edition (PLS-4) (Zimmerman, Steiner, & Evatt Pond, 2002), the Peabody Picture Vocabulary Test – Fourth Edition Form A (PPVT-4) (Dunn & Dunn, 2007), and the Expressive Vocabulary Test – Second Edition (EVT-2) (Williams, 2007). Their pre-linguistic communication and symbolic behaviours were investigated using the Caregiver Questionnaire from the Communication and Symbolic Behavior Scales Developmental Profile – First Normed Edition (CQ: CSBSDP)

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(Wetherby & Prizant, 2002). The parents were also requested to provide, if available, any home videos of their child up to the age of approximately 24 months to complement the retrospective CQ: CSBSDP data. The PLS-4 (Zimmerman et al., 2002) provides two language subscale measures: Auditory Comprehension and Expressive Communication, as well as a Total Language score. The PPVT-4 (Dunn & Dunn, 2007) provides a measure of receptive vocabulary, while the EVT-2 (Williams, 2007) provides a measure of expressive vocabulary via labelling and the provision of synonyms. The PPVT-4 and the EVT-2 are co-normed, which thus allows for an evaluation of word-retrieval skills by comparing the difference in the age-corrected expressive (EVT-2) and receptive (PPVT-4) standard scores. The CQ: CSBSDP (Wetherby & Prizant, 2002) provides seven pre-linguistic communication and symbolic behaviour cluster scores (Emotion and eye gaze, Communication, Gestures, Sounds, Words, Understanding, and Object use), which combine to give three Composite scores (Social, Speech, and Symbolic) and an overall CQ: CSBS Total score. Procedure The research was given institutional and ethical approval from the Behavioural and Social Sciences Ethical Review Committee at the University of Queensland and the Royal Children’s Hospital and Health Services District Ethics Committee. Signed informed consent was required from the children’s parent or caregiver prior to acceptance into the study. Each child was individually assessed at the University of Queensland. The PLS-4 (Zimmerman et al., 2002), the PPVT-4 (Dunn & Dunn, 2007), and the EVT-2 (Williams, 2007) were administered in a distraction-free environment in a standardised manner according to the tests’ instruction manuals. The test battery was administered in the same order for each child. No time limits were placed on participant responses, unless specified by the testing manual. Testing was completed in one session, but to avoid fatigue, breaks were offered throughout the assessment session. Raw scores were converted to age-corrected standard scores as dictated by the test manuals. The CQ: CSBSDP (Wetherby & Prizant, 2002) was mailed to the child’s parents, who were requested to retrospectively complete the questionnaire recalling their child’s behaviours at the age of 24 months, using any available means to complete (i.e. retrospective recall, home videos taken at or around their child’s second birthday, and notes recorded in baby health booklets). Raw scores from the CQ: CSBSDP were entered for statistical analysis. In each case, the child’s mother was the informant. Video data were provided for NS and two of the three control children. NS’s behaviour during assessment Child NS was compliant and responsive during the assessment. He remained focused throughout the session requiring little redirection to the tasks at hand. Drooling was noted and speech production was imprecise. Statistical analysis A series of modified t-tests (Crawford & Garthwaite, 2004) were applied to statistically determine if NS’s current performance scores or his parent’s recall of pre-linguistic

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behaviours differentiated him from his control peers. Crawford and Garthwaite’s (2004) statistical method is a well-regarded and widely used statistical approach for single-case studies (Konen, Behrmann, Nishimura, & Kastner, 2011). The method accounts for the limited size of control groups, as typically used in neuropsychological single-case studies. The Index Case is treated as a sample of n ¼ 1 and, therefore, does not contribute to the estimate of the within-group variance (Konen et al., 2011).

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Descriptive analysis The available videos were viewed only for evidence of word productions, as an absence of other CSBSDP behaviour clusters (Wetherby & Prizant, 2002) on video could not reliably be interpreted as indicative of a lack of skill development. Results Statistical analysis As displayed in Table 1, the results of the series of modified t-tests (Crawford & Garthwaite, 2004) revealed significant differences between NS and the control group on the Auditory Comprehension score of the PLS-4 and the Communication and Sounds Cluster scores and Social and Speech Composite scores of the CQ: CSBSDP (p ≤ 0.05 on each measure). On each measure, the control group of children outperformed NS. There was no significant difference between NS’s performance and the control group’s performance on the Expressive Communication score, the Total Language score from the PLS-4, the PPVT-4, the EVT-2, word-retrieval skills, Emotion and eye gaze, Gestures, Words, Understanding, and Object use Cluster scores, the Symbolic Composite score of the CQ: CSBSDP, or the Total CQ: CSBSDP score (p . 0.05 on each measure). Descriptive analysis Through the observation of his home video, Child NS was observed up to the age of 24 months to produce ta-ta, car, and yum. Control Child 1, aged 24 months on his video, produced one- and two-word utterances including milk, Sarah, Daddy, look better, on arm, wrap up, and straw off. Control Child 2, aged up to 27 months at the time of his home video, produced utterances of two or more words such as train falling, the people all around, put that one, and this thing in the way. Discussion NS, a child with classic GAL, is physically developing well through diet-dependent means of restricted intake of galactose. His cognitive development is within the average range, yet he presents at the age of 5 years 7 months with auditory comprehension skills significantly below those of his peers. Additionally, an analysis of NS’s prelinguistic communication and symbolic behaviours revealed reduced skills across a number of pre-linguistic behaviours relative to the small comparative control group data. The identification of language deficit associated with average cognitive skill in NS is consistent with earlier findings, where the language deficits associated with children

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Table 1. Descriptive statistics of the children’s language skills and pre-linguistic communication behaviours.

Age PLS-4 Auditory Comprehension Expressive Communication Total Language Score PPVT-4 EVT-2 Word-retrieval skills CQ CSBS-DP Social Cluster Emotion/eye gaze Communication Gestures Speech Cluster Sounds Words Symbolic Cluster Understanding Object use CQ CSBS-DP Composite scores Social Speech Symbolic Total CSDS-DP

NS

Control (n ¼ 3) M (SD)

Modified t-testa

5; 7

5; 3 (four months)

0.866

72 83 75 93 84 29

109 (7) 114 (18) 113 (14) 120 (15) 112 (18) 28 (16)

24.577∗ 21.491 22.351 21.559 21.347 20.054

12 14 12

15 (1) 19 (1) 12 (0)

22.598 24.330∗ 0.000

4 8.5

14 (1) 19 (4)

28.660∗ 22.381

15 15

20 (4) 21 (3)

21.082 21.443

38 12.5 30 80.5

46 34 40 120

(1) (4) (7) (11)

26.928∗ 24.763∗ 21.237 23.149

Notes: PLS-4, Preschool Language Scale – Fourth Edition; PPVT-4, Peabody Picture Vocabulary Test – Fourth Edition; EVT-2, Expressive Vocabulary Test – Second Edition; CQ CSBS-DP, Caregiver Questionnaire from the Communication and Symbolic Behavior Scales Developmental Profile – First Normed Edition. a Crawford and Garthwaite’s (2004) modified t-test. For significance at the 0.05 level, t values (df ¼ 2) must be ≥ +/2 4.303. ∗ p ≤ 0.05.

with GAL were not restricted to those with borderline-low IQ (Potter et al., 2008). Of concern in the present study is NS’s reduced auditory comprehension skill. Auditory comprehension plays an important role in the development of both receptive and expressive language skills (Watt et al., 2006) as word comprehension must necessarily precede word production (Wetherby, Reichle, & Pierce, 1998). As such, he may be at risk of ongoing language difficulties, and thus careful monitoring of subsequent skill development is imperative. Based on NS’s performance on the PPVT-4 (Dunn & Dunn, 2007) and the EVT-2 (Williams, 2007), his word-retrieval skills were as intact as his peers’. This finding fails to support previous identification of retrieval problems in children and adolescents with GAL (Antshel et al., 2004). The inconsistent results may reflect the nature of the

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assessment tools used in the current study to evaluate word-retrieval skills. Difficulty with word retrieval may be evident at the level of single words, connected discourse, or both (German, 1992), but assessment of word-finding abilities was restricted in the present study to the single-word level only. An assessment of word-finding abilities in children with GAL may require subjective and/or objective measure of conversational fluency (Tingley, Kyte, Johnson, & Beitchman, 2003) to determine wordfinding abilities at a functional level. Furthermore, the number of correct responses on the co-normed PPVT-4/EVT-2 (Dunn & Dunn, 2007; Williams, 2007) was used to determine the word-retrieval abilities of the children investigated in the current study. The speed of retrieval, rather than accuracy, has been suggested as being most notably affected in children with GAL (Widhalm, Miranda-da-Cruz, & de Sonneville, 2002), but responses in the present study were untimed. Additionally, working memory, which facilitates retrieval (Alloway, Gathercole, Willis, & Adams, 2004), has been described as deficient in children with GAL (Widhalm et al., 2002) and may be a more accurate indicator of retrieval skills. Working memory, however, was not assessed in the current study. The communicative behaviours included in the CQ: CSBSDP (Wetherby & Prizant, 2002) are reported to predict later language abilities (Wetherby & Prizant, 2002) and to dictate the timing and rate of further language learning (Carpenter, Nagell, Tomasello, Butterworth, & Moore, 1998). The predictive nature of pre-linguistic skills has been investigated in children with a range of developmental disorders (e.g. autism spectrum disorder and Down syndrome) (Watt et al., 2006), but not in those, to date, with GAL. An evaluation of NS’s pre-linguistic skills was thus undertaken to provide preliminary data on this population of children. A number of NS’s pre-linguistic behaviours, as profiled through the CQ: CSBSDP (Wetherby & Prizant, 2002), were identified as being deficient. His communication score within the Social Cluster and his Sounds score within the Speech Cluster were well below his peers’. The CQ: CSBSDP Communication score reflects the rate and function of communication in terms of the frequency of communicative acts, the use of communication to regulate behaviours of others, the use of communication to attract attention to self, and the use of communication to direct another’s attention to an object or an event (Wetherby & Prizant, 2002), while the CQ: CSBSDP Sounds score reflects vocal communicative acts that are transcribable vowel–consonant combinations and the range of different consonants produced by the child (Wetherby & Prizant, 2002). Further, two of NS’s composite scores (the Social Composite and the Speech Composite scores) were identified as sub-optimal. As well as reflecting the rate and function of communication, the Social Composite score of the CQ: CSBSDP encompasses gaze shifting, sharing positive affect and gaze/point following, and the use of conventional and distal gestures (Wetherby & Prizant, 2002). The Speech Composite score includes not only vowel–consonant combinations, but also use of words and word combinations (Wetherby & Prizant, 2002). A major limitation of the presented case study is the use of parental retrospective recall of language achievement for the completion of the CQ: CSBSDP (Wetherby & Prizant, 2002). Although parental recall of developmental language milestones is a data collection method used previously with a range of paediatric populations including those with muscular dystrophy (Cyrulnik, Fee, De Vivo, Goldstein, & Hinton, 2007), chromosomal abnormalities (Roizen et al., 2007), and autism spectrum disorder (Lewis, Murdoch, & Woodyatt, 2007), the potential shortcomings related to the

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reliance upon this method of ascertaining timing of developmental milestones are acknowledged (Glascoe, 2005; Lin et al., 2011). Nonetheless, in the current study, parental recall of pre-linguistic behaviours was complemented by observations of home videos of the children taken at or around the age of 24 months. As there may have been situation-specific constraints to observing the children across the range of CQ: CSBSDP (Wetherby & Prizant, 2002) behaviour clusters (Emotion and eye gaze, Communication, Gestures, Sounds, Words, Understanding, and Object use), production of words was chosen as an indicator of in situ examples of 24 months’ expressive language behaviours. Where video data were available, each child (Child NS and two of the three control children) was observed engaging in solitary or parallel play. Language is integral to play behaviour as it is used by the child to facilitate play, and even during solitary play, the typically developing child will rarely be silent (Levy, 1984). Evidence of expressive language skills during play was thus viewed as a reliable indicator of expressive language skill development in the children investigated in the current study. Child NS was, by the age of 24 months, producing one-word utterances only compared with the two-word combinations of one control child aged 24 months on video and threeword combinations produced by the other control child aged up to 27 months. While not conclusive, the lack of videotaped evidence of word combinations produced by NS by the age of 24 months offers support for the significantly reduced CQ: CSBSDP Speech Composite score (Wetherby & Prizant, 2002), a score, based on retrospective recall, reflecting his production of words and word combinations. A primary developmental task for young children is to learn to communicate using language, and delay in the acquisition of language is one of the earliest indicators of developmental deficits that may affect academic and social outcomes for individuals across their life span (Kaiser & Roberts, 2011). Pre-linguistic communication skills, such as those assessed through the CSBSDP (Wetherby & Prizant, 2002), play a vital role in shaping language learning trajectories (Cates et al., 2012). Given the strong evidence to suggest that early language intervention with a focus on pre-linguistic development has a positive impact on outcomes for children with developmental delays or disorders and their families (Landa, Holman, O’Neill, & Stuart, 2011; Schertz & Odom, 2007; Wetherby & Woods, 2006; Woods, Kashinath, & Goldstein, 2004), the preliminary findings of pre-linguistic skill deficits based on parental recall and auditory comprehension deficits based on current language performance in a child with GAL suggest that further investigation is warranted. Larger group studies including retrospective and prospective case studies are needed to clarify the status of pre-linguistic skill development in infants with GAL.

Conclusion The variable language outcomes associated with GAL present a challenge for parents, health care providers, and educators. Identifying early which children with GAL will need intervention and support should be a critical component of their care. The results of the current study, where deficits were identified in the Index child’s current language performance and in pre-linguistic communication skills as retrospectively reported in the child and supported by observations of home videos taken at or around the age of 24 months, suggest that future research with a focus on early-developing pre-linguistic communication skills in infants with GAL would be beneficial.

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Acknowledgements The authors wish to thank Child NA, his parents, and staff at the Department of Metabolic Medicine, Royal Children’s Hospital, Brisbane, Australia, for their support of the research. The research was funded by a University of Queensland Early Career Researcher Grant (2010002174).

Note The authors invite researchers in this field to contact the Corresponding author if they are or have conducted similar studies.

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Notes on contributors Fiona Lewis is a post-doctoral researcher with a background in speech pathology. She is engaged in research at the Centre for Neurogenic Communication Disorders Research within the School of Health and Rehabilitation Sciences at the University of Queensland, Australia. She has an interest in developmental disorders of communication such as in autism spectrum disorder and in acquired disorders of communication including following childhood cancer treatments, traumatic brain injury, and metabolic disorders. David Coman is a metabolic physician, a clinical geneticist, and a general paediatrician. He is employed by Queensland Health and is actively involved in research and teaching via the School of Medicine at the University of Queensland. Maryanne Syrmis has a first-class honours degree in speech pathology and currently holds the position as Speech Pathologist Advanced – Complex Medical at the Royal Children’s Hospital, Brisbane, Australia. She has a clinical interest in working memory, oral language, and literacy difficulties. Sarah Kilcoyne is a speech pathologist at the Royal Children’s Hospital, Brisbane, Australia. She has special interests in childhood apraxia of speech and speech therapy for children with cleft palate. Bruce Murdoch is professor and director of the Centre for Neurogenic Communication Disorders Research at the University of Queensland, Australia. His background is in neuroscience with research interests in acquired speech/language disorders in children and adults.

References Alloway, T.P., Gathercole, S.E., Willis, C., & Adams, A.M. (2004). A structural analysis of working memory and related cognitive skills in young children. Journal of Experimental Child Psychology, 87, 85 – 106. Antshel, K.M., Epstein, I.O., & Waisbren, S.E. (2004). Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: A descriptive study. Neuropsychology, 18(4), 658 –664. Berry, G.T., & Elsas, L.J. (2011). Introduction to the Maastricht workshop: Lessons from the past and new directions in galactosemia. Journal of Inherited Metabolic Disease, 34(2), 249– 255. Bosch, A.M. (2006). Classical galactosaemia revisited. Journal of Inherited Metabolic Disease, 29, 516– 525. Bosch, A.M. (2011). Classic galactosemia: Dietary dilemmas. Journal of Inherited Metabolic Disease, 34(2), 257 – 260. Bosch, A.M., Grootenhuis, M.A., Bakker, H.D., Heijmans, H.S., Wijburg, F.A., & Last, B.F. (2004). Living with classical galactosemia: Health-related quality of life consequences. Pediatrics, 113(5), e423 – e428. Carpenter, M., Nagell, K., Tomasello, M., Butterworth, G., & Moore, C. (1998). Social cognition, joint attention, and communicative competence from 9 –15 months of age.

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1756

F.M. Lewis et al.

Monographs of the Society for Research in Child Development, 63(4, No. 255), i+iii+vvi+1 –174. Cates, C.B., Dreyer, B.P., Berkule, S.B., White, L.J., Arevalo, J.A., & Mendelsohn, A.L. (2012). Infant communication and subsequent language development in children from low-income families: The role of early cognitive stimulation. Journal of Developmental and Behavioral Pediatrics, 33(7), 577 –585. Coman, D.J., Murray, D.W., Byrne, J.C., Rudd, P.M., Bagaglia, P.M., Doran, P.D., & Treacy, E.P. (2010). Galactosemia, a single gene disorder with epigenetic consequences. Pediatric Research, 67(3), 286 –292. Crawford, J.R., & Garthwaite, P.H. (2004). Statistical methods for single-case studies in neuropsychology: Comparing the slope of a patient’s regression line with those of a control sample. Cortex, 40, 533– 548. Cyrulnik, S.E., Fee, R.J., De Vivo, D.C., Goldstein, E., & Hinton, V.J. (2007). Delayed developmental language milestones in children with Duchenne’s muscular dystrophy. The Journal of Paediatrics, 150(5), 474 –478. Dunn, L.M., & Dunn, D.M. (2007). Peabody Picture Vocabulary Test (4th ed.). San Antonio, TX: Harcourt Assessment, Inc. Fridovich, J.L., & Walter, J.H. (2008). Galactosemia. In D. Valle, A.L. Beaudet, B. Vogelstein, K.W. Kinzler, S.E. Antonarakis, A. Ballabio, C.R. Scriver, W.S. Sly, B. Childs, F. Bunz, K.M. Gibson, & G. Mitchell (Eds.), The online metabolic and molecular bases of inherited disease (Part 7, Chapter 72). New York: McGraw-Hill. German, D.J. (1992). Word-finding intervention for children and adolescents. Topics in Language Disorders, 13, 33– 50. Glascoe, F.P. (2005). Re: Parents’ evaluation of developmental status. Journal of Paediatrics and Child Health, 41(11), 615– 616. Hoffmann, B., Wendel, U., & Schweitzer-Krantz, S. (2011). Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia. Journal of Inherited Metabolic Disease, 34(2), 421– 427. Hughes, J., Ryan, S., Lambert, D., Geoghegan, O., Clark, A., Rogers, Y., & Treacy, E.P. (2009). Outcomes of siblings with classical galactosemia. Journal of Pediatrics, 154(5), 721 –726. Jones, R.G. (2003). Parental Occupation Coding. Canberra: Department of Education, Science and Training. Kaiser, A.P., & Roberts, M.Y. (2011). Advances in early communication and language intervention. Journal of Early Intervention, 33(4), 298– 309. Kaufman, F.R., McBride-Chang, C., Manis, F.R., Wolff, J.A., & Nelson, M.D. (1995). Cognitive functioning, neurologic status and brain imaging in classical galactosemia. European Journal of Pediatrics, 154, (7 Suppl 2), S2– S5. Konen, C.S., Behrmann, M., Nishimura, M., & Kastner, S. (2011). The functional neuroanatomy of object agnosia: A case study. Neuron, 71(1), 49 – 60. Landa, R.J., Holman, K.C., O’Neill, A.H., & Stuart, E.A. (2011). Intervention targeting development of socially synchronous engagement in toddlers with autism spectrum disorder: A randomized controlled trial. Journal of Child Psychology and Psychiatry, 52(1), 13 –21. Levy, A.K. (1984). The language of play: The role of play in language development: A review of literature. Early Child Development and Care, 17(1), 49– 61. Lewis, F.M., Murdoch, B.E., & Woodyatt, G.C. (2007). Linguistic abilities in children with autism spectrum disorder. Research in Autism Spectrum Disorders, 1, 85 – 100. Lin, L.-Y., Cherng, R.-J., Lee, I.-C., Chen, Y.-J., Yang, H.-M., & Chen, Y.-J. (2011). The agreement of caregivers’ initial identification of children’s developmental problems with the professional assessment in Taiwan. Research in Developmental Disabilities, 32(5), 1714 – 1721. McCathren, R.B., Yoder, P.J., & Warren, S.F. (2000). Testing predictive validity of the Communication Composite of the Communication and Symbolic Behavior Scales. Journal of Early Intervention, 23(1), 36– 46. Potter, N.L., Lazarus, J.-A.C., Johnson, J.M., Steiner, R.D., & Shriberg, L.D. (2008). Correlates of language impairment in children with galactosaemia. Journal of Inherited Metabolic Disease, 31, 524 –532. Roid, G.H. (2003). Stanford –Binet intelligence scale (5th ed.). Itasca, IL: Riverside Publishing.

Downloaded by [UQ Library] at 19:05 03 December 2013

Early Child Development and Care

1757

Roizen, N.J., Antshel, K.M., Fremont, W., AbdulSabur, N., Higgins, A.M., Shprintzen, R.J., & Kates, W.R. (2007). 22q11.2DS deletion syndrome: Developmental milestones in infants and toddlers. Journal of Developmental and Behavioral Pediatrics, 28(2), 119– 124. Schadewaldt, P., Hoffmann, B., Hammen, H.-W., Kamp, G., Schweitzer-Krantz, S., & Wendel, U. (2010). Longitudinal assessment of intellectual achievement in patients with classical galactosemia. Pediatrics, 125(2), e374 –e381. Schertz, H.H., & Odom, S.L. (2007). Promoting joint attention in toddlers with autism: A parent-mediated developmental model. Journal of Autism and Developmental Disorders, 37(8), 1562 – 1575. Tingley, S.J., Kyte, C.S., Johnson, C.J., & Beitchman, J.H. (2003). Single-word and conversational measures of word-finding proficiency. American Journal of Speech – Language Pathology, 12(3), 359– 368. Waggoner, D.D., Buist, N.R.M., & Donnell, G.N. (1990). Long-term prognosis in galactosaemia: Results of a survey of 350 cases. Journal of Inherited Metabolic Disease, 13, 802 –818. Watt, N., Wetherby, A., & Shumway, S. (2006). Prelinguistic predictors of language outcome at 3 years of age. Journal of Speech, Language, and Hearing Research, 49(6), 1224 – 1237. Wetherby, A., & Prizant, B. (2002). Communication and symbolic behavior scales developmental profile-first normed edition. Baltimore, MD: Paul H. Brookes Publishing. Wetherby, A.M., Reichle, J., & Pierce, P.L. (1998). The transition to symbolic communication. In A.M. Wetherby, S.F. Warren, & J. Reichle (Eds.), Transitions in prelinguistic communication (pp. 197 –230). London: Paul H. Brookes Publishing. Wetherby, A.M., & Woods, J.J. (2006). Early social interaction project for children with autism spectrum disorders beginning in the second year of life: A preliminary study. Topics in Early Childhood Special Education, 26(2), 67– 82. Widhalm, K., Miranda-Da-Cruz, B., & de Sonneville, L.M.J. (2002). Information processing characteristics and uridine treatment in children with classical galactosemia. Nutrition Research, 22(3), 257 –270. Williams, K.T. (2007). Expressive Vocabulary Test (2nd ed.). Minneapolis, MN: Pearson Assessments. Woods, J., Kashinath, S., & Goldstein, H. (2004). Effects of embedding caregiver-implemented teaching strategies in daily routines on children’s communication outcomes. Journal of Early Intervention, 26(3), 175– 193. Zimmerman, I.L., Steiner, V.G., & Evatt Pond, R. (2002). Preschool Language Scale (4th ed.). San Antonio, TX: The Psychological Corporation.